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Annapurna Poduri, M.D.

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Mentoring
Available: 11/25/19, Expires: 12/29/22

Project 1: Human genetics of epilepsy: We have >400 cases of 'unsolved' presumed genetic epilepsy that we have aggregated at Boston Children's for phenotyping and sequencing. Student activities could include evaluating the phenotype (history, EEG and MRI data) and classifying epilepsy type, genetic analysis, and correlating the phenotype with genetic variants. We have a multi-disciplinary team and can identify a project on which students can participate as well as sub-projects for students seeking a first-author publication.

Project 2: Zebrafish models of epilepsy: For known and possible (candidate) genes for epilepsy, we are using CRISPR/Cas editing to create zebrafish models. Student roles can include construct design, zebrafish larvae phenotyping (seizures, learning, behavior, calcium imaging, in situ) as well as gene-specific in-depth studies of the neurodevelopmental effects of deleting or knocking mutations in to this model system.

Students in both groups are invited to participate in weekly lab meetings focusing on human genetics/clinical research or zebrafish modeling/bench research as well as joint meetings every alternate week of our combined Epilepsy Genetics Program.


Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R21HD096355 (GOLDSTEIN, RICHARD DANIEL) Aug 20, 2018 - Jul 31, 2020
    NIH
    Genetics of Sudden Unexpected Death in Pediatrics
    Role: Co-Principal Investigator
  2. R01NS100766 (PODURI, ANNAPURNA) Dec 1, 2017 - Nov 30, 2022
    NIH
    PCDH19-related Epilepsy-Human Genotype-Phenotype Studies Lead to Zebrafish Studies
    Role: Principal Investigator
  3. U24HD093487 (PODURI, ANNAPURNA) Sep 12, 2017 - Mar 31, 2021
    NIH
    Expert Panel: Genetics of Malformations of the Central Nervous System
    Role: Principal Investigator
  4. K23NS069784 (PODURI, ANNAPURNA) Jul 1, 2010 - Mar 31, 2015
    NIH
    Genetics of Familial Epilepsy Syndromes
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Hermanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Benova B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology. 2022 Oct 28. PMID: 36307217.
    Citations:    Fields:    
  2. Haviland I, Daniels CI, Greene CA, Drew J, Love-Nichols JA, Swanson LC, Smith L, Nie DA, Benke T, Sheidley BR, Zhang B, Poduri A, Olson HE. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. Pediatr Neurol. 2022 Oct 26; 138:71-80. PMID: 36403551.
    Citations:    Fields:    
  3. Srivastava S, Lewis SA, Cohen JS, Zhang B, Aravamuthan BR, Chopra M, Sahin M, Kruer MC, Poduri A. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 Oct 24. PMID: 36279113; PMCID: PMC9593320.
    Citations:    Fields:    
  4. Krey I, Platzer K, Esterhuizen A, Berkovic SF, Helbig I, Hildebrand MS, Lerche H, Lowenstein D, Møller RS, Poduri A, Sadleir L, Sisodiya SM, Weckhuysen S, Wilmshurst JM, Weber Y, Lemke JR, Berkovic SF, Cross JH, Helbig I, Lerche H, Lowenstein D, Mefford HC, Perucca P, Tan NC, Caglayan H, Helbig K, Singh G, Weber Y, Weckhuysen S. Current practice in diagnostic genetic testing of the epilepsies Epileptic Disord. 2022 10 01; 24(5):765-786. PMID: 35830287.
    Citations:    Fields:    Translation:Humans
  5. Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2022 09 14; 145(9):2991-3009. PMID: 34431999.
    Citations: 4     Fields:    
  6. Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA, McKhann GM, Goldman JE, Canoll P, Alexander AL, Park KL, Von Allmen GK, Rodziyevska O, Bhattacharjee MB, Lidov HGW, Vogel H, Grant GA, Porter BE, Poduri AH, Crino PB, Heinzen EL. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain. 2022 08 27; 145(8):2704-2720. PMID: 35441233; PMCID: PMC9612793.
    Citations:    Fields:    
  7. Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 Nov; 24(11):2240-2248. PMID: 35997716.
    Citations:    Fields:    Translation:Humans
  8. Srivastava S, Lewis SA, Kruer MC, Poduri A. Underrepresentation of the term cerebral palsy in clinical genetics databases. Am J Med Genet A. 2022 Dec; 188(12):3555-3557. PMID: 35959765.
    Citations:    Fields:    Translation:Humans
  9. Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM, Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. J Med Genet. 2022 Jul 05. PMID: 35790351.
    Citations:    Fields:    
  10. Varughese RT, Karkare S, Poduri A, Kothare SV. Child Neurology: Initial Presentation of PCDH19-Related Epilepsy With New-Onset Refractory Status Epilepticus and Treatment With Anakinra. Neurology. 2022 08 02; 99(5):208-211. PMID: 35914944; PMCID: PMC9421601.
    Citations:    Fields:    Translation:Humans
  11. Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain. 2022 06 03; 145(5):1668-1683. PMID: 35190816; PMCID: PMC9166568.
    Citations: 2     Fields:    Translation:Humans
  12. Robens BK, Yang X, McGraw CM, Turner LH, Robens C, Thyme S, Rotenberg A, Poduri A. Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish. Neurobiol Dis. 2022 07; 169:105738. PMID: 35460869; PMCID: PMC9284424.
    Citations:    Fields:    Translation:Animals
  13. Olson HE, Poduri A. Towards understanding genetic risk in febrile seizures: innate immunity and neuronal excitability. Brain. 2022 04 18; 145(2):416-417. PMID: 35435951.
    Citations:    Fields:    Translation:HumansCells
  14. Chourasia N, Yuskaitis CJ, Libenson MH, Bergin AM, Liu S, Zhang B, Poduri A, Harini C. Infantile spasms: Assessing the diagnostic yield of an institutional guideline and the impact of etiology on long-term treatment response. Epilepsia. 2022 05; 63(5):1164-1176. PMID: 35211955.
    Citations:    Fields:    Translation:Humans
  15. Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczynska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. PIGN encephalopathy: Characterizing the epileptology. Epilepsia. 2022 04; 63(4):974-991. PMID: 35179230.
    Citations:    Fields:    Translation:Humans
  16. Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. PMID: 35076175; PMCID: PMC8862420.
    Citations:    Fields:    Translation:Humans
  17. Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 03; 43(3):403-419. PMID: 34989426; PMCID: PMC9152572.
    Citations: 2     Fields:    Translation:Humans
  18. Koh HY, Haghighi A, Keywan C, Alexandrescu S, Plews-Ogan E, Haas EA, Brownstein CA, Vargas SO, Haynes RL, Berry GT, Holm IA, Poduri AH, Goldstein RD. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. PMID: 35027292; PMCID: PMC9164313.
    Citations:    Fields:    Translation:Humans
  19. Sheidley BR, Malinowski J, Bergner AL, Bier L, Gloss DS, Mu W, Mulhern MM, Partack EJ, Poduri A. Genetic testing for the epilepsies: A systematic review. Epilepsia. 2022 02; 63(2):375-387. PMID: 34893972.
    Citations: 2     Fields:    Translation:Humans
  20. Trowbridge S, Poduri A, Olson H. Early diagnosis and experimental treatment with fenfluramine via the Investigational New Drug mechanism in a boy with Dravet syndrome and recurrent status epilepticus. Epileptic Disord. 2021 Dec 01; 23(6):954-956. PMID: 34668864; PMCID: PMC8842495.
    Citations: 1     Fields:    Translation:Humans
  21. Blumcke I, Budday S, Poduri A, Lal D, Kobow K, Baulac S. Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours. Lancet Neurol. 2021 11; 20(11):943-955. PMID: 34687638.
    Citations: 2     Fields:    Translation:Humans
  22. D'Gama AM, Poduri A. Precision Therapy for Epilepsy Related to Brain Malformations. Neurotherapeutics. 2021 07; 18(3):1548-1563. PMID: 34608615; PMCID: PMC8608994.
    Citations: 1     Fields:    Translation:HumansAnimals
  23. Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord. 2021 09 16; 13(1):40. PMID: 34530725; PMCID: PMC8447578.
    Citations: 3     Fields:    Translation:Humans
  24. Marsh ED, Whittemore V, Leenders M, Poduri A. The 2021 Epilepsy Research Benchmarks-Respecting Core Principles, Reflecting Evolving Community Priorities. Epilepsy Curr. 2021 Oct; 21(5):389-393. PMID: 34924844; PMCID: PMC8655257.
    Citations:    
  25. Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109. PMID: 34041744; PMCID: PMC9189716.
    Citations: 6     Fields:    Translation:Humans
  26. Olson HE, Costantini JG, Swanson LC, Kaufmann WE, Benke TA, Fulton AB, Hansen R, Poduri A, Heidary G. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. Dev Med Child Neurol. 2021 11; 63(11):1308-1315. PMID: 34028805; PMCID: PMC8782241.
    Citations: 2     Fields:    Translation:HumansCells
  27. Berg AT, Mahida S, Poduri A. KCNQ2-DEE: developmental or epileptic encephalopathy? Ann Clin Transl Neurol. 2021 03; 8(3):666-676. PMID: 33616268.
    Citations: 2     Fields:    Translation:Humans
  28. Keywan C, Poduri AH, Goldstein RD, Holm IA. Genetic Factors Underlying Sudden Infant Death Syndrome. Appl Clin Genet. 2021; 14:61-76. PMID: 33623412.
    Citations: 3     
  29. McGraw CM, Mahida S, Jayakar P, Koh HY, Taylor A, Resnick T, Rodan L, Schwartz MA, Ejaz A, Sankaran VG, Berry G, Poduri A. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. PMID: 33497533.
    Citations: 2     Fields:    Translation:Humans
  30. Ni M, Afroze B, Xing C, Pan C, Shao Y, Cai L, Cantarel BL, Pei J, Grishin NV, Hewson S, Knight D, Mahida S, Michel D, Tarnopolsky M, Poduri A, Rotenberg A, Sondheimer N, DeBerardinis RJ. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. Genet Med. 2021 05; 23(5):900-908. PMID: 33473208; PMCID: PMC8105169.
    Citations: 1     Fields:    Translation:Humans
  31. Dentici ML, Alesi V, Quinodoz M, Robens B, Guerin A, Lebon S, Poduri A, Travaglini L, Graziola F, Afenjar A, Keren B, Licursi V, Capuano A, Dallapiccola B, Superti-Furga A, Novelli A. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. J Med Genet. 2022 03; 59(3):262-269. PMID: 33397746.
    Citations: 3     Fields:    Translation:HumansAnimals
  32. El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586. PMID: 33325057; PMCID: PMC9161810.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  33. Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY, Poduri A, Yang E, Walsh CA. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. PMID: 32959437; PMCID: PMC7877488.
    Citations: 1     Fields:    Translation:Humans
  34. Ottman R, Poduri A. Gene tests in adults with epilepsy and intellectual disability. Nat Rev Neurol. 2020 10; 16(10):527-528. PMID: 32616899.
    Citations: 1     Fields:    Translation:Humans
  35. Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A, Thomas RH, Krause R, Weber Y, Helbig I. Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2020 10 01; 107(4):683-697. PMID: 32853554; PMCID: PMC7536581.
    Citations: 7     Fields:    Translation:Humans
  36. Keywan C, Holm IA, Poduri A, Brownstein CA, Alexandrescu S, Chen J, Geffre C, Goldstein RD. A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. Eur J Med Genet. 2020 Sep; 63(9):104002. PMID: 32652122.
    Citations: 1     Fields:    Translation:Humans
  37. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. PMID: 33574273.
    Citations:    
  38. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. PMID: 32655885.
    Citations: 9     
  39. Amador A, Bostick CD, Olson H, Peters J, Camp CR, Krizay D, Chen W, Han W, Tang W, Kanber A, Kim S, Teoh J, Sah M, Petri S, Paek H, Kim A, Lutz CM, Yang M, Myers SJ, Bhattacharya S, Yuan H, Goldstein DB, Poduri A, Boland MJ, Traynelis SF, Frankel WN. Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. Brain. 2020 07 01; 143(7):2039-2057. PMID: 32577763; PMCID: PMC7363493.
    Citations: 13     Fields:    Translation:HumansAnimals
  40. Poduri A, Devinsky O, Tabacinic M, Jadad AR. Experiencing Positive Health, as a Family, While Living With a Rare Complex Disease: Bringing Participatory Medicine Through Collaborative Decision Making Into the Real World. J Particip Med. 2020 Jun 22; 12(2):e17602. PMID: 33064105.
    Citations:    
  41. Rochtus AM, Goldstein RD, Holm IA, Brownstein CA, Pérez-Palma E, Haynes R, Lal D, Poduri AH. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309. PMID: 32449611.
    Citations: 6     Fields:    Translation:Humans
  42. Kobow K, Reid CA, van Vliet EA, Becker AJ, Carvill GL, Goldman AM, Hirose S, Lopes-Cendes I, Khiari HM, Poduri A, Johnson MR, Henshall DC. Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force. Epileptic Disord. 2020 Apr 01; 22(2):127-141. PMID: 32301721.
    Citations: 5     Fields:    Translation:Humans
  43. Sansevere AJ, Henderson LA, Stredny CM, Prabhu SP, Shah A, Sundel R, Madsen J, Dufreney C, Poduri A, Gorman MP. Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab. Epilepsy Behav Rep. 2020; 14:100360. PMID: 32368732.
    Citations: 3     
  44. Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C, Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med. 2020 03 17; 12(1):28. PMID: 32183904.
    Citations: 11     Fields:    
  45. Harini C, Nagarajan E, Bergin AM, Pearl P, Loddenkemper T, Takeoka M, Morrison PF, Coulter D, Harappanahally G, Marti C, Singh K, Yuskaitis C, Poduri A, Libenson MH. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. PMID: 32133641.
    Citations: 6     Fields:    Translation:Humans
  46. Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020 03; 61(3):387-399. PMID: 32090326.
    Citations: 23     Fields:    Translation:Humans
  47. Jones JE, Asato MR, Brown MG, Doss JL, Felton EA, Kearney JA, Talos D, Dacks PA, Whittemore V, Poduri A. Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):31S-39S. PMID: 31973592.
    Citations: 1     
  48. Chang BS, Krishnan V, Dulla CG, Jette N, Marsh ED, Dacks PA, Whittemore V, Poduri A. Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):5S-13S. PMID: 31965828.
    Citations: 2     
  49. Traynelis SF, Dlugos D, Henshall D, Mefford HC, Rogawski MA, Staley KJ, Dacks PA, Whittemore V, Poduri A. Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):23S-30S. PMID: 31965829; PMCID: PMC7031805.
    Citations: 5     
  50. Rochtus A, Olson HE, Smith L, Keith LG, El Achkar C, Taylor A, Mahida S, Park M, Kelly M, Shain C, Rockowitz S, Rosen Sheidley B, Poduri A. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia. 2020 02; 61(2):249-258. PMID: 31957018.
    Citations: 21     Fields:    Translation:HumansCells
  51. Binder DK, Boison D, Eid T, Frankel WN, Mingorance A, Smith BN, Dacks PA, Whittemore V, Poduri A. Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):14S-22S. PMID: 31937124; PMCID: PMC7031802.
    Citations: 3     
  52. Scheffer IE, Boysen KE, Schneider AL, Myers CT, Mehaffey MG, Rochtus AM, Yuen YP, Ronen GM, Chak WK, Gill D, Poduri A, Mefford HC. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. Dev Med Child Neurol. 2020 09; 62(9):1096-1099. PMID: 31868227.
    Citations: 4     Fields:    Translation:Humans
  53. Poduri A, Whittemore VH. The Benchmarks: Progress and Emerging Priorities in Epilepsy Research. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):3S-4S. PMID: 31868039.
    Citations: 3     
  54. Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Ann Neurol. 2019 12; 86(6):821-831. PMID: 31618474.
    Citations: 21     Fields:    Translation:Humans
  55. Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Pichon B, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB. Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356. PMID: 31660690.
    Citations:    Fields:    Translation:HumansCells
  56. Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL, Kearney JA. Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Ann Neurol. 2019 12; 86(6):899-912. PMID: 31600826.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  57. Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. PMID: 31597037; PMCID: PMC6961983.
    Citations: 157     Fields:    Translation:Humans
  58. XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, Wu Y, Bao X, Zhang Y, Dirkx N, Schoonjans AS, Syrbe S, Myers SJ, Poduri A, Aizenman E, Traynelis SF, Lemke JR, Yuan H, Jiang Y. Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain. 2019 10 01; 142(10):3009-3027. PMID: 31504254; PMCID: PMC6763743.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  59. Yuskaitis CJ, Rossitto LA, Gurnani S, Bainbridge E, Poduri A, Sahin M. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. Hum Mol Genet. 2019 09 01; 28(17):2952-2964. PMID: 31174205; PMCID: PMC6736288.
    Citations: 12     Fields:    Translation:AnimalsCells
  60. Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Correction: The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Aug; 21(8):1896. PMID: 30262923; PMCID: PMC7608233.
    Citations: 2     Fields:    
  61. Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, Guralnick MJ. Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments. Ann Neurol. 2019 09; 86(3):332-343. PMID: 31206741.
    Citations:    Fields:    Translation:Humans
  62. Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, Scheffer IE, Berkovic SF, Hildebrand MS. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Res. 2019 09; 155:106161. PMID: 31295639.
    Citations: 16     Fields:    Translation:Humans
  63. Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin AS, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Correction to: The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Jul; 21(7):1671. PMID: 30158694; PMCID: PMC7608347.
    Citations: 1     Fields:    
  64. Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Šterbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 06 06; 104(6):1060-1072. PMID: 31104773.
    Citations: 29     Fields:    Translation:HumansAnimals
  65. Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet. 2019 05 02; 104(5):948-956. PMID: 30982612; PMCID: PMC6507039.
    Citations: 13     Fields:    Translation:HumansCells
  66. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562. PMID: 30849329; PMCID: PMC6407522.
    Citations: 3     Fields:    
  67. Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541. PMID: 30827496; PMCID: PMC6407527.
    Citations: 12     Fields:    Translation:HumansCells
  68. Rochtus AM, Trowbridge S, Goldstein RD, Sheidley BR, Prabhu SP, Haynes R, Kinney HC, Poduri AH. Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression. Cold Spring Harb Mol Case Stud. 2019 02; 5(1). PMID: 30709877.
    Citations: 4     Fields:    Translation:HumansAnimals
  69. Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. PMID: 30682224.
    Citations: 17     Fields:    Translation:Humans
  70. Sánchez Fernández I, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A. Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study. Neurology. 2019 Jan 04. PMID: 30610098.
    Citations: 17     Fields:    
  71. Lin X, Duan X, Jacobs C, Ullmann J, Chan CY, Chen S, Cheng SH, Zhao WN, Poduri A, Wang X, Haggarty SJ, Shi P. High-throughput brain activity mapping and machine learning as a foundation for systems neuropharmacology. Nat Commun. 2018 12 03; 9(1):5142. PMID: 30510233.
    Citations: 8     Fields:    Translation:AnimalsCells
  72. Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Am J Med Genet A. 2018 12; 176(12):2554-2560. PMID: 30475435.
    Citations: 7     Fields:    Translation:Humans
  73. Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. 2018 11; 39(11):1476-1484. PMID: 30311377; PMCID: PMC7418072.
    Citations: 14     Fields:    Translation:Humans
  74. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678. PMID: 30343943; PMCID: PMC6216110.
    Citations: 30     Fields:    Translation:Humans
  75. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 10 04; 103(4):631. PMID: 30290155; PMCID: PMC6174321.
    Citations: 3     Fields:    
  76. LaCoursiere CM, Ullmann JFP, Poduri A. An Open-Source Husbandry Repository. Zebrafish. 2018 12; 15(6):656-658. PMID: 30183560; PMCID: PMC6426270.
    Citations:    Fields:    Translation:Animals
  77. Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK. Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron. 2018 09 05; 99(5):905-913.e7. PMID: 30146301; PMCID: PMC6226006.
    Citations: 39     Fields:    Translation:HumansAnimalsCells
  78. Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 02; 21(2):398-408. PMID: 30093711; PMCID: PMC6292495.
    Citations: 46     Fields:    Translation:HumansCells
  79. Ottman R, Freyer C, Mefford HC, Poduri A, Lowenstein DH. Return of individual results in epilepsy genomic research: A view from the field. Epilepsia. 2018 09; 59(9):1635-1642. PMID: 30098010.
    Citations: 6     Fields:    Translation:Humans
  80. Yuskaitis CJ, Sheidley BR, Poduri A. Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies. JAMA Pediatr. 2018 08 01; 172(8):779-780. PMID: 29868823; PMCID: PMC6142924.
    Citations: 1     Fields:    Translation:Humans
  81. Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018 07; 50(7):1048-1053. PMID: 29942082.
    Citations: 75     Fields:    Translation:Humans
  82. Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018 06; 83(6):1133-1146. PMID: 29679388; PMCID: PMC6105543.
    Citations: 35     Fields:    Translation:HumansCells
  83. Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. PMID: 29738522.
    Citations: 14     Fields:    Translation:Humans
  84. Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. Pediatr Neurol. 2018 10; 87:48-56. PMID: 30174244.
    Citations: 13     Fields:    Translation:Humans
  85. Esterhuizen AI, Carvill GL, Ramesar RS, Kariuki SM, Newton CR, Poduri A, Wilmshurst JM. Clinical Application of Epilepsy Genetics in Africa: Is Now the Time? Front Neurol. 2018; 9:276. PMID: 29770117; PMCID: PMC5940732.
    Citations: 4     
  86. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007. PMID: 29656858; PMCID: PMC5986694.
    Citations: 7     Fields:    Translation:Humans
  87. Kim H, Chadwick L, Alzaidi Y, Picker J, Poduri A, Manzi S. HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion. Pediatrics. 2018 04; 141(Suppl 5):S434-S438. PMID: 29610167.
    Citations: 4     Fields:    Translation:HumansCells
  88. Brownstein CA, Goldstein RD, Thompson CH, Haynes RL, Giles E, Sheidley B, Bainbridge M, Haas EA, Mena OJ, Lucas J, Schaber B, Holm IA, George AL, Kinney HC, Poduri AH. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62. PMID: 29601086; PMCID: PMC6453530.
    Citations: 15     Fields:    Translation:Humans
  89. Harini C, Sharda S, Bergin AM, Poduri A, Yuskaitis CJ, Peters JM, Rakesh K, Kapur K, Pearl PL, Prabhu SP. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. PMID: 29575949.
    Citations: 7     Fields:    Translation:Humans
  90. Berg AT, Chakravorty S, Koh S, Grinspan ZM, Shellhaas RA, Saneto RP, Wirrell EC, Coryell J, Chu CJ, Mytinger JR, Gaillard WD, Valencia I, Knupp KG, Loddenkemper T, Sullivan JE, Poduri A, Millichap JJ, Keator C, Wusthoff C, Ryan N, Dobyns WB, Hegde M. Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. PLoS One. 2018; 13(3):e0193599. PMID: 29518120.
    Citations: 9     Fields:    Translation:Humans
  91. Pearl PL, Poduri A, Prabhu SP, Harini C, Goldstein R, Atkinson RM, Armstrong D, Kinney H. White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 04; 59(4):e40-e44. PMID: 29473152.
    Citations: 6     Fields:    Translation:Humans
  92. Smith L, Singhal N, El Achkar CM, Truglio G, Rosen Sheidley B, Sullivan J, Poduri A. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia. 2018 03; 59(3):679-689. PMID: 29377098; PMCID: PMC6264912.
    Citations: 23     Fields:    Translation:Humans
  93. Jobst-Schwan T, Schmidt JM, Schneider R, Hoogstraten CA, Ullmann JFP, Schapiro D, Majmundar AJ, Kolb A, Eddy K, Shril S, Braun DA, Poduri A, Hildebrandt F. Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. PLoS One. 2018; 13(1):e0191503. PMID: 29346415.
    Citations: 8     Fields:    Translation:Animals
  94. Perry MS, Poduri A. Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies. Epilepsy Curr. 2018 Jan-Feb; 18(1):24-26. PMID: 29844755; PMCID: PMC5967592.
    Citations: 1     
  95. D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766. PMID: 29281825; PMCID: PMC5752134.
    Citations: 92     Fields:    Translation:HumansAnimalsCells
  96. Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Fliedner A, Gregor A, Sticht H, Zweier C. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Am J Hum Genet. 2018 01 04; 102(1):44-57. PMID: 29276004; PMCID: PMC5777381.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  97. Yuskaitis CJ, Jones BM, Wolfson RL, Super CE, Dhamne SC, Rotenberg A, Sabatini DM, Sahin M, Poduri A. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis. 2018 03; 111:91-101. PMID: 29274432; PMCID: PMC5803417.
    Citations: 40     Fields:    Translation:AnimalsCells
  98. McTague A, Nair U, Malhotra S, Meyer E, Trump N, Gazina EV, Papandreou A, Ngoh A, Ackermann S, Ambegaonkar G, Appleton R, Desurkar A, Eltze C, Kneen R, Kumar AV, Lascelles K, Montgomery T, Ramesh V, Samanta R, Scott RH, Tan J, Whitehouse W, Poduri A, Scheffer IE, Chong WKK, Cross JH, Topf M, Petrou S, Kurian MA. Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology. 2018 01 02; 90(1):e55-e66. PMID: 29196579; PMCID: PMC5754647.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  99. Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, O'Driscoll-Collins A, Berkovic SF, Scheffer IE, Poduri A, Mei D, Guerrini R, Lowenstein DH, Allen AS, Heinzen EL, Goldstein DB. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PLoS Genet. 2017 Nov; 13(11):e1007104. PMID: 29186148.
    Citations: 12     Fields:    Translation:Humans
  100. Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 05; 176(5):1099-1107. PMID: 28944563.
    Citations: 7     Fields:    Translation:HumansAnimals
  101. Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 05; 101(4):516-524. PMID: 28942967; PMCID: PMC5630160.
    Citations: 18     Fields:    Translation:HumansCells
  102. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. PMID: 28805828; PMCID: PMC5819591.
    Citations: 73     Fields:    Translation:HumansAnimalsCells
  103. Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar; 81(3):419-429. PMID: 28133863; PMCID: PMC5366084.
    Citations: 36     Fields:    Translation:Humans
  104. El Achkar CM, Rosen Sheidley B, O'Rourke D, Takeoka M, Poduri A. Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. Epilepsy Behav Case Rep. 2019; 11:125-128. PMID: 31193310; PMCID: PMC6525261.
    Citations: 2     
  105. Smith LA, Ullmann JF, Olson HE, Achkar CM, Truglio G, Kelly M, Rosen-Sheidley B, Poduri A. A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436. PMID: 28056630; PMCID: PMC5625332.
    Citations: 2     Fields:    Translation:HumansAnimals
  106. Poduri A. When Should Genetic Testing Be Performed in Epilepsy Patients? Epilepsy Curr. 2017 Jan-Feb; 17(1):16-22. PMID: 28331464; PMCID: PMC5340549.
    Citations: 10     
  107. Poduri A, Pomeroy SL. Tracking the Fate of Cells in Health and Disease. N Engl J Med. 2016 Dec 22; 375(25):2494-2496. PMID: 28002713.
    Citations: 1     Fields:    Translation:Animals
  108. Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017 01; 140(1):49-67. PMID: 27864268; PMCID: PMC5226060.
    Citations: 33     Fields:    Translation:HumansCells
  109. Rodan LH, El Achkar CM, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. PMID: 27770045.
    Citations: 7     Fields:    Translation:Humans
  110. Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet. 2016 11; 48(11):1349-1358. PMID: 27694961; PMCID: PMC5086093.
    Citations: 35     Fields:    Translation:HumansAnimalsCells
  111. Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997. PMID: 27612489; PMCID: PMC6281079.
    Citations: 23     Fields:    
  112. Meyer M, Dhamne SC, LaCoursiere CM, Tambunan D, Poduri A, Rotenberg A. Correction: Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish. PLoS One. 2016; 11(7):e0159472. PMID: 27416023.
    Citations: 4     Fields:    
  113. Meyer M, Dhamne SC, LaCoursiere CM, Tambunan D, Poduri A, Rotenberg A. Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish. PLoS One. 2016; 11(6):e0156498. PMID: 27281339.
    Citations: 11     Fields:    Translation:AnimalsCells
  114. Kahle KT, Khanna AR, Duan J, Staley KJ, Delpire E, Poduri A. The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition. Neuroscientist. 2016 12; 22(6):555-562. PMID: 27130838.
    Citations: 33     Fields:    Translation:HumansAnimals
  115. Hodgeman RM, Kapur K, Paris A, Marti C, Can A, Kimia A, Loddenkemper T, Bergin A, Poduri A, Libenson M, Lamb N, Jafarpour S, Harini C. Effectiveness of once-daily high-dose ACTH for infantile spasms. Epilepsy Behav. 2016 06; 59:4-8. PMID: 27084976.
    Citations: 2     Fields:    Translation:Humans
  116. Poduri A, Sperling M, Nehlig A, Mathern G. Comments from the Editor(s). Epilepsia. 2016 Feb; 57(2):336-7. PMID: 26849480.
    Citations:    
  117. Pinto AL, Chen L, Friedman R, Grant PE, Poduri A, Takeoka M, Prabhu SP, Sahin M. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 05; 58:25-30. PMID: 26706049.
    Citations: 14     Fields:    Translation:Humans
  118. Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ. Disorders of Microtubule Function in Neurons: Imaging Correlates. AJNR Am J Neuroradiol. 2016 Mar; 37(3):528-35. PMID: 26564436.
    Citations: 25     Fields:    Translation:HumansCells
  119. Poduri A. The Expanding SCN8A-Related Epilepsy Phenotype. Epilepsy Curr. 2015 Nov-Dec; 15(6):333-4. PMID: 26633954; PMCID: PMC4657766.
    Citations:    
  120. Bourgeois FT, Olson KL, Poduri A, Mandl KD. Comparison of Drug Utilization Patterns in Observational Data: Antiepileptic Drugs in Pediatric Patients. Paediatr Drugs. 2015 Oct; 17(5):401-10. PMID: 26070280.
    Citations: 7     Fields:    Translation:Humans
  121. Stödberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiöld S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA. Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nat Commun. 2015 Sep 03; 6:8038. PMID: 26333769; PMCID: PMC4569694.
    Citations: 50     Fields:    Translation:HumansAnimalsCells
  122. Fallil Z, Pardoe H, Bachman R, Cunningham B, Parulkar I, Shain C, Poduri A, Knowlton R, Kuzniecky R. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. Epilepsy Behav. 2015 Oct; 51:321-7. PMID: 26340046.
    Citations: 3     Fields:    Translation:HumansCells
  123. Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66. PMID: 26291284; PMCID: PMC4567464.
    Citations: 73     Fields:    Translation:Humans
  124. Joshi PA, Poduri A, Kothare SV. Juvenile myoclonic epilepsy and narcolepsy: A series of three cases. Epilepsy Behav. 2015 Oct; 51:163-5. PMID: 26283305.
    Citations: 1     Fields:    Translation:Humans
  125. El Achkar CM, Olson HE, Poduri A, Pearl PL. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. PMID: 26008807.
    Citations: 14     Fields:    Translation:HumansAnimals
  126. Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015 Sep; 56(9):e114-20. PMID: 26122718.
    Citations: 41     Fields:    Translation:Humans
  127. Winden KD, Yuskaitis CJ, Poduri A. Megalencephaly and Macrocephaly. Semin Neurol. 2015 Jun; 35(3):277-87. PMID: 26060907.
    Citations: 10     Fields:    Translation:Humans
  128. Poduri A. Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy. Epilepsy Curr. 2015 May-Jun; 15(3):122-3. PMID: 26316846; PMCID: PMC4527137.
    Citations: 4     
  129. Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am J Med Genet A. 2015 Sep; 167A(9):2017-25. PMID: 25914188; PMCID: PMC5722031.
    Citations: 36     Fields:    Translation:Humans
  130. Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 07; 96(5):709-19. PMID: 25865492; PMCID: PMC4570282.
    Citations: 28     Fields:    Translation:Humans
  131. D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. PMID: 25599672; PMCID: PMC4471336.
    Citations: 97     Fields:    Translation:HumansCells
  132. Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2015 Feb 03; 10(4):645. PMID: 25832109.
    Citations: 14     Fields:    
  133. Poduri A. HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy. Epilepsy Curr. 2014 Nov-Dec; 14(6):348-9. PMID: 25678871; PMCID: PMC4325594.
    Citations: 1     
  134. Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM. Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. Ann Neurol. 2014 Oct; 76(4):581-93. PMID: 25044251.
    Citations: 42     Fields:    Translation:Humans
  135. Olson HE, Poduri A, Pearl PL. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. PMID: 25192505.
    Citations: 10     Fields:    Translation:HumansAnimals
  136. Poduri A. A channel for precision diagnosis and treatment in genetic epilepsy. Ann Neurol. 2014 Sep; 76(3):323-4. PMID: 25092618.
    Citations: 3     Fields:    Translation:Humans
  137. Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2014 Sep 11; 8(5):1280-9. PMID: 25159146; PMCID: PMC4272008.
    Citations: 119     Fields:    Translation:HumansCells
  138. Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. PMID: 25140959; PMCID: PMC4274952.
    Citations: 127     Fields:    Translation:Humans
  139. Thome-Souza S, Kadish NE, Ramgopal S, Sánchez Fernández I, Bergin AM, Bolton J, Harini C, Libenson M, Olson H, Peters J, Poduri A, Rotenberg A, Takeoka M, Kothare SV, Kapur K, Bourgeois BF, Loddenkemper T. Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. Epilepsia. 2014 Aug; 55(8):1235-44. PMID: 25070475.
    Citations: 3     Fields:    Translation:Humans
  140. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. PMID: 24811917.
    Citations: 64     Fields:    Translation:Humans
  141. Mirzaa GM, Poduri A. Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. Am J Med Genet C Semin Med Genet. 2014 Jun; 166C(2):156-72. PMID: 24888963.
    Citations: 39     Fields:    Translation:HumansAnimalsCells
  142. Pinto AL, Pinto AL, Lohani S, Bergin AM, Bourgeois BF, Black PM, Prabhu SP, Madsen JR, Takeoka M, Poduri A. Surgery for intractable epilepsy due to unilateral brain disease: a retrospective study comparing hemispherectomy techniques. Pediatr Neurol. 2014 Sep; 51(3):336-43. PMID: 25160539.
    Citations: 12     Fields:    Translation:Humans
  143. Poduri A. DEPDC5 does it all: shared genetics for diverse epilepsy syndromes. Ann Neurol. 2014 May; 75(5):631-3. PMID: 24753000.
    Citations: 7     Fields:    Translation:Humans
  144. Poduri A, Sheidley BR, Shostak S, Ottman R. Genetic testing in the epilepsies-developments and dilemmas. Nat Rev Neurol. 2014 May; 10(5):293-9. PMID: 24733164.
    Citations: 33     Fields:    Translation:Humans
  145. Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 03; 94(4):547-58. PMID: 24656866.
    Citations: 52     Fields:    Translation:HumansAnimalsCells
  146. O'Rourke DJ, Bergin A, Rotenberg A, Peters J, Gorman M, Poduri A, Cryan J, Lidov H, Madsen J, Harini C. Rasmussen's encephalitis presenting as focal cortical dysplasia. Epilepsy Behav Case Rep. 2014; 2:86-9. PMID: 25667877; PMCID: PMC4307873.
    Citations: 4     
  147. Klehm J, Thome-Souza S, Sánchez Fernández I, Bergin AM, Bolton J, Harini C, Kadish NE, Libenson M, Peters J, Poduri A, Rotenberg A, Takeoka M, Bourgeois B, Loddenkemper T. Clobazam: effect on frequency of seizures and safety profile in different subgroups of children with epilepsy. Pediatr Neurol. 2014 Jul; 51(1):60-6. PMID: 24830765.
    Citations: 7     Fields:    Translation:Humans
  148. Poduri A, Salih M, Walsh CA. Reply: To PMID 24243345. Ann Neurol. 2014 Feb; 75(2):326. PMID: 24242934.
    Citations:    Fields:    Translation:Humans
  149. Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec; 74(6):873-82. PMID: 24596948; PMCID: PMC4031329.
    Citations: 32     Fields:    Translation:Humans
  150. Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013 Nov 05; 81(19):1697-703. PM