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Phillip Lawrence Pearl, M.D.

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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. Stone SSD, Park EH, Bolton J, Harini C, Libenson MH, Rotenberg A, Takeoka M, Tsuboyama M, Pearl PL, Madsen JR. Interictal Connectivity Revealed by Granger Analysis of Stereoelectroencephalography: Association With Ictal Onset Zone, Resection, and Outcome. Neurosurgery. 2022 10 01; 91(4):583-589. PMID: 36084171.
    Citations:    Fields:    Translation:Humans
  2. Pearl PL, Kunz WS. Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease. Neurology. 2022 Aug 25. PMID: 36008152.
    Citations:    Fields:    
  3. Pearl PL. Intelligent biomarker panel development for neurometabolic disease. Dev Med Child Neurol. 2022 Dec; 64(12):1441-1442. PMID: 35978465.
    Citations:    Fields:    Translation:Humans
  4. Papadelis C, Ricci L, Matarrese MAG, Peters JM, Tamilia E, Madsen J, Pearl PL. Reply to "Added value of high-resolution electrical source imaging of ictal activity in children with structural focal epilepsy". Clin Neurophysiol. 2022 08; 140:254-255. PMID: 35728995.
    Citations:    Fields:    Translation:Humans
  5. Pearl PL. Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies. Eur J Paediatr Neurol. 2022 07; 39:A3. PMID: 35732574.
    Citations:    Fields:    Translation:Humans
  6. Ricci L, Matarrese M, Peters JM, Tamilia E, Madsen JR, Pearl PL, Papadelis C. Virtual implantation using conventional scalp EEG delineates seizure onset and predicts surgical outcome in children with epilepsy. Clin Neurophysiol. 2022 07; 139:49-57. PMID: 35526353.
    Citations:    Fields:    Translation:Humans
  7. Pearl PL. Autonomic risks in Alternating Hemiplegia of Childhood. Eur J Paediatr Neurol. 2022 05; 38:A3. PMID: 35487825.
    Citations:    Fields:    Translation:Humans
  8. Barrit S, Park EH, Rotenberg A, Kaye H, Pearl PL, Madsen JR. Single-stage resection of bottom-of-a-sulcus dysplasia involving eloquent cortex using navigated transcranial magnetic stimulation and intraoperative modalities. Childs Nerv Syst. 2022 07; 38(7):1365-1370. PMID: 35449311.
    Citations:    Fields:    Translation:Humans
  9. Billardello R, Ntolkeras G, Chericoni A, Madsen JR, Papadelis C, Pearl PL, Grant PE, Taffoni F, Tamilia E. Novel User-Friendly Application for MRI Segmentation of Brain Resection following Epilepsy Surgery. Diagnostics (Basel). 2022 Apr 18; 12(4). PMID: 35454065; PMCID: PMC9032020.
    Citations:    
  10. Lee HHC, McGinty GE, Pearl PL, Rotenberg A. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Int J Mol Sci. 2022 Feb 26; 23(5). PMID: 35269750; PMCID: PMC8910003.
    Citations:    Fields:    Translation:HumansAnimals
  11. Sansevere AJ, DiBacco ML, Pearl PL, Rotenberg A. Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol. J Child Neurol. 2022 01; 37(1):5-11. PMID: 34809499.
    Citations:    Fields:    Translation:Humans
  12. Pearl PL, DiBacco ML, Roullet JB, Gibson KM. Proceedings of the International SSADH Deficiency 2020 Conference. J Child Neurol. 2021 11; 36(13-14):1151-1152. PMID: 34806467.
    Citations:    Fields:    Translation:Humans
  13. Corona L, Tamilia E, Madsen JR, Stufflebeam SM, Pearl PL, Papadelis C. Mapping Functional Connectivity of Epileptogenic Networks through Virtual Implantation. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:408-411. PMID: 34891320; PMCID: PMC8893022.
    Citations:    Fields:    Translation:Humans
  14. Jahromi S, Matarrese MAG, Tamilia E, Perry MS, Madsen JR, Pearl PL, Papadelis C. Mapping Propagation of Interictal Spikes, Ripples, and Fast Ripples in Intracranial EEG of Children with Refractory Epilepsy. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:194-197. PMID: 34891270; PMCID: PMC8896264.
    Citations:    Fields:    Translation:Humans
  15. Cheung F, Pearl PL, Stamoulis C. Novel Seizure Biomarkers in Continuous Electrocardiograms from Pediatric Epilepsy Patients. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:382-385. PMID: 34891314; PMCID: PMC8710233.
    Citations:    Fields:    Translation:Humans
  16. Matarrese MAG, Loppini A, Jahromi S, Tamilia E, Fabbri L, Madsen JR, Pearl PL, Filippi S, Papadelis C. Electric Source Imaging on Intracranial EEG Localizes Spatiotemporal Propagation of Interictal Spikes in Children with Epilepsy. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:2668-2671. PMID: 34891801; PMCID: PMC8928574.
    Citations:    Fields:    Translation:Humans
  17. Stone S, Madsen JR, Bolton J, Pearl PL, Chavakula V, Day E. A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. J Clin Neurophysiol. 2021 Nov 01; 38(6):509-515. PMID: 32732496; PMCID: PMC8560154.
    Citations:    Fields:    Translation:Humans
  18. Fallah A, Lewis E, Ibrahim GM, Kola O, Tseng CH, Harris WB, Chen JS, Lin KM, Cai LX, Liu QZ, Lin JL, Zhou WJ, Mathern GW, Smyth MD, O'Neill BR, Dudley RWR, Ragheb J, Bhatia S, Delev D, Ramantani G, Zentner J, Wang AC, Dorfer C, Feucht M, Czech T, Bollo RJ, Issabekov G, Zhu H, Connolly M, Steinbok P, Zhang JG, Zhang K, Hidalgo ET, Weiner HL, Wong-Kisiel L, Lapalme-Remis S, Tripathi M, Sarat Chandra P, Hader W, Wang FP, Yao Y, Champagne PO, Brunette-Clément T, Guo Q, Li SC, Budke M, Pérez-Jiménez MA, Raftopoulos C, Finet P, Michel P, Schaller K, Stienen MN, Baro V, Cantillano Malone C, Pociecha J, Chamorro N, Muro VL, von Lehe M, Vieker S, Oluigbo C, Gaillard WD, Al-Khateeb M, Al Otaibi F, Krayenbühl N, Bolton J, Pearl PL, Weil AG. Comparison of the real-world effectiveness of vertical versus lateral functional hemispherotomy techniques for pediatric drug-resistant epilepsy: A post hoc analysis of the HOPS study. Epilepsia. 2021 11; 62(11):2707-2718. PMID: 34510448; PMCID: PMC9290517.
    Citations: 1     Fields:    Translation:Humans
  19. Bose M, Roullet JB, Gibson KM, Rizzo WB, Mansur HM, McConnell A, Hoffman CA, DiBacco ML, Pearl PL. Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. J Child Neurol. 2021 11; 36(13-14):1223-1230. PMID: 34463169; PMCID: PMC8664972.
    Citations:    Fields:    Translation:Humans
  20. Hwu PW, Kiening K, Anselm I, Compton DR, Nakajima T, Opladen T, Pearl PL, Roubertie A, Roujeau T, Muramatsu SI. Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021 09 07; 13(9):e14712. PMID: 34423905; PMCID: PMC8422070.
    Citations: 3     Fields:    Translation:Humans
  21. Brumback AC, Wilson RB, Augustine EF, Bass NE, Bassuk AG, Cejas DM, Shellhaas RA, Strober JB, Tilton AC, Pearl PL. Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. Ann Neurol. 2021 10; 90(4):537-538. PMID: 34288089.
    Citations:    Fields:    Translation:Humans
  22. Iandolo G, Chourasia N, Ntolkeras G, Madsen JR, Papadelis C, Grant E, Pearl PL, Taffoni F, Tamilia E. Changes in the Functional Brain Network of Children Undergoing Repeated Epilepsy Surgery: An EEG Source Connectivity Study. Diagnostics (Basel). 2021 Jul 09; 11(7). PMID: 34359317.
    Citations: 1     
  23. Saper CB, Klein C, McArthur JC, Pearl PL, Goetz CG. Remembrance of Things Past: A Critical Step in Changing our Future. Ann Neurol. 2021 10; 90(4):521-523. PMID: 34173267.
    Citations:    Fields:    
  24. Ebrahimi-Fakhari D, Saffari A, Pearl PL. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022 Dec; 137(4):436-444. PMID: 34183250; PMCID: PMC8843241.
    Citations: 1     Fields:    
  25. Tsuboyama M, Liu J, Kaye H, DiBacco M, Pearl PL, Rotenberg A. Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. J Child Neurol. 2021 11; 36(13-14):1169-1176. PMID: 34058900; PMCID: PMC8630082.
    Citations: 1     Fields:    Translation:Humans
  26. Schreiber JM, Wiggs E, Cuento R, Norato G, Dustin IH, Rolinski R, Austermuehle A, Zhou X, Inati SK, Gibson KM, Pearl PL, Theodore WH. A Randomized Controlled Trial of SGS-742, a ?-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1189-1199. PMID: 34015244; PMCID: PMC8605041.
    Citations: 1     Fields:    Translation:HumansCTClinical Trials
  27. Sansevere AJ, DiBacco ML, Zhang B, Akhondi-Asl A, Libenson MH, Tasker RC, Pearl PL. Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification. J Clin Neurophysiol. 2021 May 05. PMID: 34144575.
    Citations:    Fields:    
  28. Ricci L, Tamilia E, Alhilani M, Alter A, Scott Perry ?, Madsen JR, Peters JM, Pearl PL, Papadelis C. Source imaging of seizure onset predicts surgical outcome in pediatric epilepsy. Clin Neurophysiol. 2021 07; 132(7):1622-1635. PMID: 34034087; PMCID: PMC8202024.
    Citations: 4     Fields:    Translation:Humans
  29. Ntolkeras G, Tamilia E, AlHilani M, Bolton J, Ellen Grant P, Prabhu SP, Madsen JR, Stufflebeam SM, Pearl PL, Papadelis C. Presurgical accuracy of dipole clustering in MRI-negative pediatric patients with epilepsy: Validation against intracranial EEG and resection. Clin Neurophysiol. 2022 09; 141:126-138. PMID: 33875376; PMCID: PMC8803140.
    Citations: 7     Fields:    
  30. Tamilia E, Matarrese MAG, Ntolkeras G, Grant PE, Madsen JR, Stufflebeam SM, Pearl PL, Papadelis C. Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. Ann Neurol. 2021 05; 89(5):911-925. PMID: 33710676.
    Citations: 9     Fields:    Translation:Humans
  31. Ahmadi ZZ, DiBacco ML, Pearl PL. Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. J Child Neurol. 2021 11; 36(13-14):1210-1217. PMID: 33757330.
    Citations:    Fields:    Translation:Humans
  32. Weil AG, Lewis EC, Ibrahim GM, Kola O, Tseng CH, Zhou X, Lin KM, Cai LX, Liu QZ, Lin JL, Zhou WJ, Mathern GW, Smyth MD, O'Neill BR, Dudley R, Ragheb J, Bhatia S, Delev D, Ramantani G, Zentner J, Ojemann J, Wang AC, Dorfer C, Feucht M, Czech T, Bollo RJ, Issabekov G, Zhu H, Connelly M, Steinbok P, Zhang JG, Zhang K, Hidalgo ET, Weiner HL, Wong-Kisiel L, Lapalme-Remis S, Tripathi M, Sarat Chandra P, Hader W, Wang FP, Yao Y, Olivier Champagne P, Guo Q, Li SC, Budke M, Pérez-Jiménez MA, Raftapoulos C, Finet P, Michel P, Schaller K, Stienen MN, Baro V, Cantillano Malone C, Pociecha J, Chamorro N, Muro VL, von Lehe M, Vieker S, Oluigbo C, Gaillard WD, Al Khateeb M, Al Otaibi F, Krayenbühl N, Bolton J, Pearl PL, Fallah A. Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. Epilepsia. 2021 05; 62(5):1064-1073. PMID: 33713438.
    Citations: 2     Fields:    Translation:Humans
  33. Lee HHC, Pearl PL, Rotenberg A. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity. J Child Neurol. 2021 11; 36(13-14):1200-1209. PMID: 33624531; PMCID: PMC8382780.
    Citations: 1     Fields:    Translation:Animals
  34. Afacan O, Yang E, Lin AP, Coello E, DiBacco ML, Pearl PL, Warfield SK, Consortium SDI. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1162-1168. PMID: 33557675; PMCID: PMC8349937.
    Citations: 1     Fields:    Translation:Humans
  35. Harini C, Yuskaitis CJ, Libenson MH, Yang E, DeLeo M, Zhang B, Mysak K, Marti C, Peters JM, Bergin AM, Pearl PL, Prabhu SP. Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. J Child Neurol. 2021 06; 36(7):575-582. PMID: 33432856.
    Citations:    Fields:    Translation:Humans
  36. Pearl PL, DiBacco ML, Papadelis C, Opladen T, Hanson E, Roullet JB, Gibson KM. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. J Child Neurol. 2021 11; 36(13-14):1153-1161. PMID: 33393837; PMCID: PMC8254814.
    Citations: 3     Fields:    Translation:Humans
  37. Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 01; 44(1):178-192. PMID: 33200442.
    Citations: 10     Fields:    Translation:Humans
  38. Pearl PL. Child neurology, COVID-19, and crisis in society. Dev Med Child Neurol. 2020 10; 62(10):1113. PMID: 33448361.
    Citations: 1     Fields:    Translation:Humans
  39. Kirby T, Walters DC, Shi X, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, DiBacco M, Pearl PL, Roullet JB, Gibson KM. Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. Orphanet J Rare Dis. 2020 09 23; 15(1):261. PMID: 32967698.
    Citations:    Fields:    Translation:Humans
  40. DiBacco ML, Pop A, Salomons GS, Hanson E, Roullet JB, Gibson KM, Pearl PL. Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 11 10; 95(19):e2675-e2682. PMID: 32887777; PMCID: PMC7713737.
    Citations: 3     Fields:    Translation:HumansCells
  41. Vernau KM, Struys E, Letko A, Woolard KD, Aguilar M, Brown EA, Cissell DD, Dickinson PJ, Shelton GD, Broome MR, Gibson KM, Pearl PL, König F, Van Winkle TJ, O'Brien D, Roos B, Matiasek K, Jagannathan V, Drögemüller C, Mansour TA, Brown CT, Bannasch DL. A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes (Basel). 2020 09 02; 11(9). PMID: 32887425.
    Citations:    Fields:    Translation:AnimalsCells
  42. Pearl PL, Greenberg L. How the jazz medium can inform interprofessional health care teams in improving patient care. Med Teach. 2020 12; 42(12):1337-1342. PMID: 32805158.
    Citations: 1     Fields:    Translation:Humans
  43. Fantaneanu TA, Jacobs CS, De Gusmao C, Bergin AM, Milligan TA, Pearl PL, Dworetzky BA. Pediatric and adult neurologist perspectives on the challenges of sustaining a transfer clinic. Neurol Clin Pract. 2020 Aug; 10(4):356-361. PMID: 32983616.
    Citations:    
  44. Graf WD, Epstein LG, Pearl PL. Reply to Russo and Trabacca. Pediatr Neurol. 2020 11; 112:1. PMID: 32823136.
    Citations:    Fields:    Translation:HumansPHPublic Health
  45. Bernstock JD, Olsen HE, Segar D, Huang K, Kappel AD, Essayed W, Pearl PL, Madsen JR. Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature. World Neurosurg. 2020 10; 142:450-455. PMID: 32652281.
    Citations: 1     Fields:    Translation:Humans
  46. Sansevere AJ, DiBacco ML, Akhondi-Asl A, LaRovere K, Loddenkemper T, Rivkin MJ, Thiagarajan RR, Pearl PL, Libenson MH, Tasker RC. EEG features of brain injury during extracorporeal membrane oxygenation in children. Neurology. 2020 09 08; 95(10):e1372-e1380. PMID: 32631921.
    Citations: 2     Fields:    Translation:Humans
  47. Pearl PL, Mink JW, Cohen BH, Bamford N, Bass N, Jordan L, Wainwright MS, Larson RB. The President, Past President, Executive Director, and the Board of the Child Neurology Society Denounce Racism and Inequality. Ann Neurol. 2020 08; 88(2):209-210. PMID: 32567711.
    Citations:    Fields:    Translation:Humans
  48. Grinspan ZM, Mytinger JR, Baumer FM, Ciliberto MA, Cohen BH, Dlugos DJ, Harini C, Hussain SA, Joshi SM, Keator CG, Knupp KG, McGoldrick PE, Nickels KC, Park JT, Pasupuleti A, Patel AD, Shahid AM, Shellhaas RA, Shrey DW, Singh RK, Wolf SM, Yozawitz EG, Yuskaitis CJ, Waugh JL, Pearl PL. Management of Infantile Spasms During the COVID-19 Pandemic. J Child Neurol. 2020 10; 35(12):828-834. PMID: 32576057.
    Citations: 19     Fields:    Translation:HumansCellsPHPublic Health
  49. Grinspan ZM, Mytinger JR, Baumer FM, Ciliberto MA, Cohen BH, Dlugos DJ, Harini C, Hussain SA, Joshi SM, Keator CG, Knupp KG, McGoldrick PE, Nickels KC, Park JT, Pasupuleti A, Patel AD, Pomeroy SL, Shahid AM, Shellhaas RA, Shrey DW, Singh RK, Wolf SM, Yozawitz EG, Yuskaitis CJ, Waugh JL, Pearl PL. Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217. PMID: 32445204.
    Citations: 5     Fields:    Translation:HumansCellsPHPublic Health
  50. Okada Y, Khan S, Curran A, Ahtam B, Hämäläinen MS, Traub RD, Pearl PL. Epileptic Activity Intrinsically Generated in the Human Cerebellum. Ann Neurol. 2020 08; 88(2):418-422. PMID: 32421204.
    Citations:    Fields:    Translation:Humans
  51. Graf WD, Epstein LG, Pearl PL. Practical Bioethics during the Exceptional Circumstances of a Pandemic. Pediatr Neurol. 2020 07; 108:3-4. PMID: 32381278.
    Citations: 4     Fields:    Translation:HumansPHPublic Health
  52. 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
  53. Tamilia E, Dirodi M, Alhilani M, Grant PE, Madsen JR, Stufflebeam SM, Pearl PL, Papadelis C. Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. Ann Clin Transl Neurol. 2020 03; 7(3):329-342. PMID: 32096612.
    Citations: 12     Fields:    Translation:Humans
  54. Alhilani M, Tamilia E, Ricci L, Ricci L, Grant PE, Madsen JR, Pearl PL, Papadelis C. Ictal and interictal source imaging on intracranial EEG predicts epilepsy surgery outcome in children with focal cortical dysplasia. Clin Neurophysiol. 2020 03; 131(3):734-743. PMID: 32007920.
    Citations: 10     Fields:    Translation:Humans
  55. Dirodi M, Tamilia E, Grant PE, Madsen JR, Stufflebeam SM, Pearl PL, Papadelis C. Noninvasive Localization of High-Frequency Oscillations in Children with Epilepsy: Validation against Intracranial Gold-Standard. Annu Int Conf IEEE Eng Med Biol Soc. 2019 Jul; 2019:1555-1558. PMID: 31946191.
    Citations: 6     Fields:    Translation:Humans
  56. Brown M, Ashcraft P, Arning E, Bottiglieri T, McClintock W, Giancola F, Lieberman D, Hauser NS, Miller R, Roullet JB, Pearl P, Gibson KM. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Mol Genet Genomic Med. 2019 05; 7(5):e629. PMID: 30829465.
    Citations: 2     Fields:    Translation:Humans
  57. Tamilia E, AlHilani M, Tanaka N, Tsuboyama M, Peters JM, Grant PE, Madsen JR, Stufflebeam SM, Pearl PL, Papadelis C. Assessing the localization accuracy and clinical utility of electric and magnetic source imaging in children with epilepsy. Clin Neurophysiol. 2019 04; 130(4):491-504. PMID: 30771726; PMCID: PMC8903800.
    Citations: 18     Fields:    Translation:Humans
  58. Hegde AU, Karnavat PK, Vyas R, DiBacco ML, Grant PE, Pearl PL. GABA Transaminase Deficiency With Survival Into Adulthood. J Child Neurol. 2019 03; 34(4):216-220. PMID: 30644311; PMCID: PMC7292229.
    Citations: 2     Fields:    Translation:Humans
  59. DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL. Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019 01; 6(1):114-120. PMID: 30656189; PMCID: PMC6331944.
    Citations: 14     Fields:    Translation:Humans
  60. Stamoulis C, Connolly J, Axeen E, Kaulas H, Bolton J, Dorfman K, Halford JJ, Duffy FH, Treves ST, Pearl PL. Non-invasive Seizure Localization with Ictal Single-Photon Emission Computed Tomography is Impacted by Preictal/Early Ictal Network Dynamics. IEEE Trans Biomed Eng. 2018 Nov 09. PMID: 30418877.
    Citations: 2     Fields:    
  61. 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:    
  62. Tamilia E, Park EH, Percivati S, Bolton J, Taffoni F, Peters JM, Grant PE, Pearl PL, Madsen JR, Papadelis C. Surgical resection of ripple onset predicts outcome in pediatric epilepsy. Ann Neurol. 2018 09; 84(3):331-346. PMID: 30022519.
    Citations: 22     Fields:    Translation:Humans
  63. Tanaka N, Papadelis C, Tamilia E, Madsen JR, Pearl PL, Stufflebeam SM. Magnetoencephalographic Mapping of Epileptic Spike Population Using Distributed Source Analysis: Comparison With Intracranial Electroencephalographic Spikes. J Clin Neurophysiol. 2018 Jul; 35(4):339-345. PMID: 29746391.
    Citations: 2     Fields:    Translation:Humans
  64. 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
  65. Pearl PL. GABA: no longer the faithful neurotransmitter. Dev Med Child Neurol. 2018 08; 60(8):734. PMID: 29630719.
    Citations:    Fields:    Translation:Humans
  66. 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
  67. Tanaka N, Papadelis C, Tamilia E, AlHilani M, Madsen JR, Pearl PL, Stufflebeam SM. Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Pediatr Neurol. 2018 06; 83:25-31. PMID: 29685607; PMCID: PMC5988951.
    Citations: 4     Fields:    Translation:Humans
  68. 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
  69. Fung FW, Libenson MH, Bolton J, Pearl PL, Kapur K, Marti C, Paris A, Bergin AM, Harini C. Seizure clustering during presurgical electroencephalographic monitoring in children. Epilepsy Behav. 2018 03; 80:291-295. PMID: 29398626.
    Citations:    Fields:    Translation:Humans
  70. Pearl PL. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):186-209. PMID: 29432243.
    Citations: 7     Fields:    Translation:Humans
  71. Klein P, Dingledine R, Aronica E, Bernard C, Blümcke I, Boison D, Brodie MJ, Brooks-Kayal AR, Engel J, Forcelli PA, Hirsch LJ, Kaminski RM, Klitgaard H, Kobow K, Lowenstein DH, Pearl PL, Pitkänen A, Puhakka N, Rogawski MA, Schmidt D, Sillanpää M, Sloviter RS, Steinhäuser C, Vezzani A, Walker MC, Löscher W. Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Epilepsia. 2018 01; 59(1):37-66. PMID: 29247482; PMCID: PMC5993212.
    Citations: 82     Fields:    Translation:HumansAnimals
  72. Vega C, Sánchez Fernández I, Peters J, Thome-Souza MS, Jackson M, Takeoka M, Wilkening GN, Pearl PL, Chapman K, Loddenkemper T. Response to clobazam in continuous spike-wave during sleep. Dev Med Child Neurol. 2018 03; 60(3):283-289. PMID: 29168169.
    Citations: 2     Fields:    Translation:HumansCTClinical Trials
  73. Sansevere AJ, Duncan ED, Libenson MH, Loddenkemper T, Pearl PL, Tasker RC. Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. J Clin Neurophysiol. 2017 Sep; 34(5):421-426. PMID: 28430674.
    Citations: 4     Fields:    Translation:Humans
  74. Buraniqi E, Sansevere AJ, Kapur K, Bergin AM, Pearl PL, Loddenkemper T. Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. J Child Neurol. 2017 Sep; 32(10):880-885. PMID: 28691593.
    Citations: 3     Fields:    Translation:Humans
  75. Guerriero RM, Patel AA, Walsh B, Baumer FM, Shah AS, Peters JM, Rodan LH, Agrawal PB, Pearl PL, Takeoka M. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. PMID: 28985901; PMCID: PMC6008785.
    Citations: 5     Fields:    Translation:Humans
  76. Sansevere AJ, Avalone J, Strauss LD, Patel AA, Pinto A, Ramachandran M, Fernandez IS, Bergin AM, Kimia A, Pearl PL, Loddenkemper T. Diagnostic and Therapeutic Management of a First Unprovoked Seizure in Children and Adolescents With a Focus on the Revised Diagnostic Criteria for Epilepsy. J Child Neurol. 2017 07; 32(8):774-788. PMID: 28503985.
    Citations:    Fields:    Translation:Humans
  77. Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. PMID: 28411234; PMCID: PMC5444310.
    Citations: 19     Fields:    Translation:Humans
  78. Nabbout R, Andrade DM, Bahi-Buisson N, Cross H, Desquerre I, Dulac O, Granata T, Hirsch E, Navarro V, Ouss L, Pearl PL, Schmidt D, Thiele E, Camfield PR, Camfield CS. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy Behav. 2017 04; 69:161-169. PMID: 28256379.
    Citations: 10     Fields:    Translation:Humans
  79. Johansen SS, Wang X, Sejer Pedersen D, Pearl PL, Roullet JB, Ainslie GR, Vogel KR, Gibson KM. Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2017; 36:93-98. PMID: 28213850; PMCID: PMC5680286.
    Citations: 3     
  80. Vogel KR, Ainslie GR, Pearl PL, Gibson KM. Aberrant mTOR signaling and disrupted autophagy: The missing link in potential vigabatrin-associated ocular toxicity? Clin Pharmacol Ther. 2017 04; 101(4):458-461. PMID: 27864823; PMCID: PMC5801739.
    Citations: 5     Fields:    Translation:HumansCells
  81. Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia. 2017 03; 58(3):436-445. PMID: 28139826.
    Citations: 25     Fields:    Translation:Humans
  82. Tamilia E, Madsen JR, Grant PE, Pearl PL, Papadelis C. Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. Front Neurol. 2017; 8:14. PMID: 28194133; PMCID: PMC5276819.
    Citations: 24     
  83. Sánchez Fernández I, Sansevere AJ, Guerriero RM, Buraniqi E, Pearl PL, Tasker RC, Loddenkemper T. Time to electroencephalography is independently associated with outcome in critically ill neonates and children. Epilepsia. 2017 03; 58(3):420-428. PMID: 28130784; PMCID: PMC6736634.
    Citations: 12     Fields:    Translation:Humans
  84. Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017 01 18; 12(1):12. PMID: 28100251.
    Citations: 43     Fields:    Translation:Humans
  85. Papadelis C, Tamilia E, Stufflebeam S, Grant PE, Madsen JR, Pearl PL, Tanaka N. Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. J Vis Exp. 2016 12 06; (118). PMID: 28060325.
    Citations: 27     Fields:    Translation:Humans
  86. Tomko S, Loddenkemper T, Pearl PL. Texting Rhythm With Temporal Predominance. J Clin Neurophysiol. 2016 Dec; 33(6):570. PMID: 27749506.
    Citations:    Fields:    Translation:Humans
  87. Stamoulis C, Verma N, Kaulas H, Halford JJ, Duffy FH, Pearl PL, Treves ST. The promise of subtraction ictal SPECT co-registered to MRI for improved seizure localization in pediatric epilepsies: Affecting factors and relationship to the surgical outcome. Epilepsy Res. 2017 01; 129:59-66. PMID: 27918961; PMCID: PMC5285455.
    Citations: 7     Fields:    Translation:Humans
  88. Attri SV, Singhi P, Wiwattanadittakul N, Goswami JN, Sankhyan N, Salomons GS, Roullett JB, Hodgeman R, Parviz M, Gibson KM, Pearl PL. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep. 2017; 34:111-115. PMID: 27815844.
    Citations: 7     
  89. Jansen EE, Vogel KR, Salomons GS, Pearl PL, Roullet JB, Gibson KM. Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. J Inherit Metab Dis. 2016 11; 39(6):795-800. PMID: 27686230; PMCID: PMC5115636.
    Citations: 12     Fields:    Translation:HumansCells
  90. Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016 Oct; 2(5):e96. PMID: 27602407; PMCID: PMC4995058.
    Citations: 59     
  91. Kuratani J, Pearl PL, Sullivan L, Riel-Romero RM, Cheek J, Stecker M, San-Juan D, Selioutski O, Sinha SR, Drislane FW, Tsuchida TN. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. J Clin Neurophysiol. 2016 Aug; 33(4):320-3. PMID: 27482791.
    Citations: 6     Fields:    Translation:Humans
  92. Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. PMID: 27600546; PMCID: PMC5223550.
    Citations: 13     Fields:    Translation:Humans
  93. Schreiber JM, Pearl PL, Dustin I, Wiggs E, Barrios E, Wassermann EM, Gibson KM, Theodore WH. Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2016; 30:81-87. PMID: 27338723; PMCID: PMC5110443.
    Citations: 9     
  94. Ulate-Campos A, Coughlin F, Gaínza-Lein M, Fernández IS, Pearl PL, Loddenkemper T. Automated seizure detection systems and their effectiveness for each type of seizure. Seizure. 2016 Aug; 40:88-101. PMID: 27376911.
    Citations: 32     Fields:    Translation:Humans
  95. Malaspina P, Roullet JB, Pearl PL, Ainslie GR, Vogel KR, Gibson KM. Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Neurochem Int. 2016 10; 99:72-84. PMID: 27311541; PMCID: PMC5028283.
    Citations: 29     Fields:    Translation:HumansAnimals
  96. Papadelis C, Ashkezari SFS, Doshi C, Thome-Souza S, Pearl PL, Grant PE, Tasker RC, Loddenkemper T. Real-time multi-channel monitoring of burst-suppression using neural network technology during pediatric status epilepticus treatment. Clin Neurophysiol. 2016 08; 127(8):2820-2831. PMID: 27417058.
    Citations:    Fields:    Translation:Humans
  97. Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016 07; 57(7):1027-35. PMID: 27270488.
    Citations: 47     Fields:    Translation:HumansAnimals
  98. Pearl PL. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016 05; 23(2):158-66. PMID: 27544473.
    Citations: 2     Fields:    Translation:Humans
  99. Pinto A, Sahin M, Pearl PL. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. PMID: 27019697.
    Citations: 9     Fields:    
  100. Baumer FM, Peters JM, El Achkar CM, Pearl PL. SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. PMID: 27595042; PMCID: PMC5004990.
    Citations: 2     
  101. Pearl PL. From gene discovery to precision intervention in epilepsy: almost the end of the beginning. Dev Med Child Neurol. 2016 Apr; 58(4):330-1. PMID: 26890147.
    Citations:    Fields:    Translation:Humans
  102. Taskin BD, Karalok ZS, Gurkas E, Aydin K, Aydogmus U, Ceylaner S, Karaer K, Yilmaz C, Pearl PL. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016 06; 31(7):938-41. PMID: 26893310.
    Citations: 9     Fields:    Translation:Humans
  103. Kuratani J, Pearl PL, Sullivan LR, Riel-Romero RMS, Cheek J, Stecker MM, Orta DSJ, Selioutski O, Sinha SR, Drislane FW, Tsuchida TN. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Neurodiagn J. 2016; 56(4):266-275. PMID: 28436801.
    Citations: 4     Fields:    Translation:Humans
  104. Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016 05; 58:113-5. PMID: 27268762.
    Citations: 2     Fields:    Translation:Humans
  105. Harini C, Nagarajan E, Kimia AA, de Carvalho RM, An S, Bergin AM, Takeoka M, Pearl PL, Loddenkemper T. Utility of initial EEG in first complex febrile seizure. Epilepsy Behav. 2015 Nov; 52(Pt A):200-4. PMID: 26448592.
    Citations: 1     Fields:    Translation:Humans
  106. Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, Guberman A, Salomons GS, Jakobs C, Ali-Ridha A, Parviz M, Pearl PL. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015 Sep 08; 85(10):861-5. PMID: 26268900; PMCID: PMC4560056.
    Citations: 20     Fields:    Translation:Humans
  107. Yuskaitis CJ, Parviz M, Loui P, Wan CY, Pearl PL. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Curr Neurol Neurosci Rep. 2015 Aug; 15(8):51. PMID: 26092314.
    Citations: 2     Fields:    Translation:HumansAnimals
  108. Weckhuysen S, Pearl PL. Gene sleuthing in pyridoxine-dependent epilepsy. Neurology. 2015 Sep 01; 85(9):748-9. PMID: 26224728.
    Citations:    Fields:    Translation:Humans
  109. 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
  110. Rodan LH, Gibson KM, Pearl PL. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. PMID: 26194033.
    Citations: 15     Fields:    Translation:Humans
  111. Whitehead MT, Nagaraj UD, Pearl PL. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015 Jul; 45(8):1198-205. PMID: 25701113.
    Citations: 10     Fields:    Translation:Humans
  112. Pearl PL, Parviz M, Vogel K, Schreiber J, Theodore WH, Gibson KM. Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Dev Med Child Neurol. 2015 Jul; 57(7):611-617. PMID: 25558043; PMCID: PMC4485983.
    Citations: 16     Fields:    
  113. Parviz M, Vogel K, Gibson KM, Pearl PL. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014 Nov 25; 3(4):217-227. PMID: 25485164.
    Citations: 29     
  114. 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
  115. Demarest ST, Whitehead MT, Turnacioglu S, Pearl PL, Gropman AL. Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. J Child Neurol. 2014 Sep; 29(9):1249-56. PMID: 25038129.
    Citations: 9     Fields:    Translation:Humans
  116. Helman G, Pappa MB, Pearl PL. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:23-7. PMID: 25001633.
    Citations: 11     
  117. Pearl PL, McConnell ER, Fernandez R, Brooks-Kayal A. Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Pediatr Neurol. 2014 Sep; 51(3):344-7. PMID: 24993248.
    Citations:    Fields:    Translation:Humans
  118. Pearl PL, Sable C, Evans S, Knight J, Cunningham P, Lotrecchiano GR, Gropman A, Stuart S, Glass P, Conway A, Ramadan I, Paiva T, Batshaw ML, Packer RJ. International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health. 2014 Jun; 20(6):559-62. PMID: 24660879.
    Citations: 5     Fields:    Translation:Humans
  119. Pearl PL, Gospe SM. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 2014 Apr 22; 82(16):1392-4. PMID: 24658927.
    Citations: 6     Fields:    Translation:HumansAnimals
  120. Pearl PL, Schreiber J, Theodore WH, McCarter R, Barrios ES, Yu J, Wiggs E, He J, Gibson KM. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 2014 Mar 18; 82(11):940-4. PMID: 24523482; PMCID: PMC3963004.
    Citations: 15     Fields:    Translation:Humans
  121. Helman G, Pappa MB, Pearl PL. Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:97. PMID: 25944030; PMCID: PMC6373175.
    Citations:    
  122. Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33. PMID: 24375884.
    Citations: 31     Fields:    Translation:Humans
  123. Bosemani T, Anghelescu C, Boltshauser E, Hoon AH, Pearl PL, Craiu D, Johnston MV, Huisman TA, Poretti A. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol. 2014 May; 18(3):249-56. PMID: 24149100.
    Citations: 3     Fields:    Translation:Humans
  124. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. PMID: 23891656.
    Citations: 16     Fields:    Translation:Humans
  125. Pearl PL, McCarter R, McGavin CL, Yu Y, Sandoval F, Trzcinski S, Atabaki SM, Tsuchida T, van den Anker J, He J, Klein P. Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Epilepsia. 2013 Sep; 54(9):e135-7. PMID: 23876024.
    Citations: 19     Fields:    Translation:HumansCTClinical Trials
  126. Forni S, Pearl PL, Gibson KM, Yu Y, Sweetman L. Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):196. PMID: 23867525.
    Citations:    Fields:    Translation:HumansPHPublic Health
  127. Yu JY, Pearl PL. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat. 2013; 2013:124934. PMID: 23762547.
    Citations: 15     
  128. Salpekar JA, Berl MM, Havens K, Cushner-Weinstein S, Conry JA, Pearl PL, Yaun AL, Gaillard WD. Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Epilepsia. 2013 Jun; 54(6):1074-82. PMID: 23662984.
    Citations: 9     Fields:    Translation:Humans
  129. Forni S, Pearl PL, Gibson KM, Yu Y, Sweetman L. Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Mol Genet Metab. 2013 Jul; 109(3):255-9. PMID: 23742746.
    Citations: 9     Fields:    Translation:HumansPHPublic Health
  130. Pearl PL. Monoamine neurotransmitter deficiencies. Handb Clin Neurol. 2013; 113:1819-25. PMID: 23622404.
    Citations: 4     Fields:    Translation:Humans
  131. Pearl PL, Hyland K, Chiles J, McGavin CL, Yu Y, Taylor D. Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep. 2013; 9:139-142. PMID: 23430561.
    Citations: 17     
  132. Klein P, Herr D, Pearl PL, Natale J, Levine Z, Nogay C, Sandoval F, Trzcinski S, Atabaki SM, Tsuchida T, van den Anker J, Soldin SJ, He J, McCarter R. Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Arch Neurol. 2012 Oct; 69(10):1290-5. PMID: 22777131; PMCID: PMC4798941.
    Citations: 22     Fields:    Translation:HumansCTClinical Trials
  133. Vanadia E, Gibson KM, Pearl PL, Trapolino E, Mangano S, Vanadia F. Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2013; 8:133-7. PMID: 23430529.
    Citations: 8     
  134. Pearl PL. Comment: Right-sizing adult neurology training for the child neurologist. Neurology. 2012 Aug 21; 79(8):819. PMID: 22786598.
    Citations:    Fields:    Translation:Humans
  135. Klein P, Herr D, Pearl PL, Natale J, Levine Z, Nogay C, Sandoval F, Trzcinsky S, Atabaki SM, Tsuchida T, van den Anker J, Soldin SJ, He J, McCarter R. Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Epilepsy Behav. 2012 Aug; 24(4):457-61. PMID: 22771222.
    Citations: 11     Fields:    Translation:HumansCTClinical Trials
  136. Vogel KR, Pearl PL, Theodore WH, McCarter RC, Jakobs C, Gibson KM. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. J Inherit Metab Dis. 2013 May; 36(3):401-10. PMID: 22739941.
    Citations: 28     Fields:    Translation:HumansAnimals
  137. Reis J, Cohen LG, Pearl PL, Fritsch B, Jung NH, Dustin I, Theodore WH. GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology. 2012 Jul 03; 79(1):47-54. PMID: 22722631; PMCID: PMC3385496.
    Citations: 17     Fields:    Translation:HumansCells
  138. Duke ES, Tesfaye M, Berl MM, Walker JE, Ritzl EK, Fasano RE, Conry JA, Pearl PL, Sato S, Theodore WH, Gaillard WD. The effect of seizure focus on regional language processing areas. Epilepsia. 2012 Jun; 53(6):1044-50. PMID: 22554135.
    Citations: 8     Fields:    Translation:Humans
  139. Pearl PL, Drillings IM, Conry JA. Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Semin Pediatr Neurol. 2011 Sep; 18(3):203-8. PMID: 22062945.
    Citations: 5     Fields:    Translation:HumansAnimals
  140. Pearl PL, Shukla L, Theodore WH, Jakobs C, Michael Gibson K. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev. 2011 Oct; 33(9):796-805. PMID: 21664777.
    Citations: 20     Fields:    Translation:HumansAnimals
  141. Freilich ER, Jones JM, Gaillard WD, Conry JA, Tsuchida TN, Reyes C, Dib-Hajj S, Waxman SG, Meisler MH, Pearl PL. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. 2011 May; 68(5):665-71. PMID: 21555645; PMCID: PMC3092158.
    Citations: 18     Fields:    Translation:Humans
  142. Pearl PL, Pettiford JM, Combs SE, Heffron A, Healton S, Hovaguimian A, Macri CJ. Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum. Biochem Mol Biol Educ. 2011 May-Jun; 39(3):191-5. PMID: 21618382.
    Citations: 3     Fields:    Translation:HumansCTClinical Trials
  143. Kim KJ, Pearl PL, Jensen K, Snead OC, Malaspina P, Jakobs C, Gibson KM. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal. 2011 Aug 01; 15(3):691-718. PMID: 20973619.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  144. Packer RJ, Villongco J, Batshaw M, Holbrook P, Gaillard WD, Pearl PL, Weinstein S, Zechman E. Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Pediatr Neurol. 2011 Jan; 44(1):1-9. PMID: 21147380.
    Citations:    Fields:    
  145. Miller AK, Khademian Z, Pearl PL. Uveitis and white matter abnormalities in pediatric sarcoidosis. Arch Neurol. 2010 Jul; 67(7):890-1. PMID: 20625101.
    Citations: 1     Fields:    Translation:HumansCells
  146. Acosta MT, Munasinghe J, Pearl PL, Gupta M, Finegersh A, Gibson KM, Theodore WH. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. J Child Neurol. 2010 Dec; 25(12):1457-61. PMID: 20445195.
    Citations: 5     Fields:    Translation:HumansAnimals
  147. Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol. 2010 Apr; 42(4):255-8. PMID: 20304328; PMCID: PMC3155415.
    Citations: 13     Fields:    Translation:HumansCells
  148. Pearl PL, Shamim S, Theodore WH, Gibson KM, Forester K, Combs SE, Lewin D, Dustin I, Reeves-Tyer P, Jakobs C, Sato S. Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep. 2009 Dec; 32(12):1645-8. PMID: 20041601.
    Citations: 7     Fields:    Translation:Humans
  149. Pearl PL, Gibson KM, Quezado Z, Dustin I, Taylor J, Trzcinski S, Schreiber J, Forester K, Reeves-Tyer P, Liew C, Shamim S, Herscovitch P, Carson R, Butman J, Jakobs C, Theodore W. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology. 2009 Aug 11; 73(6):423-9. PMID: 19667317; PMCID: PMC2727143.
    Citations: 39     Fields:    Translation:HumansCells
  150. Pearl PL. Neurological problems of jazz legends. J Child Neurol. 2009 Aug; 24(8):1037-42. PMID: 19666887.
    Citations:    Fields:    Translation:Humans
  151. Rosenberger LR, Zeck J, Berl MM, Moore EN, Ritzl EK, Shamim S, Weinstein SL, Conry JA, Pearl PL, Sato S, Vezina LG, Theodore WH, Gaillard WD. Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Neurology. 2009 May 26; 72(21):1830-6. PMID: 19470965; PMCID: PMC2690987.
    Citations: 32     Fields:    Translation:Humans
  152. Hsieh DT, Pearl PL. Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Neurology. 2009 Mar 24; 72(12):e56. PMID: 19307535; PMCID: PMC2677473.
    Citations:    Fields:    Translation:Humans
  153. Pearl PL. New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis. 2009 Apr; 32(2):204-13. PMID: 19234868.
    Citations: 5     Fields:    Translation:Humans
  154. Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009 Jun; 32(3):343-52. PMID: 19172412.
    Citations: 39     Fields:    Translation:HumansAnimals
  155. Mbwana J, Berl MM, Ritzl EK, Rosenberger L, Mayo J, Weinstein S, Conry JA, Pearl PL, Shamim S, Moore EN, Sato S, Vezina LG, Theodore WH, Gaillard WD. Limitations to plasticity of language network reorganization in localization related epilepsy. Brain. 2009 Feb; 132(Pt 2):347-56. PMID: 19059978; PMCID: PMC2640214.
    Citations: 46     Fields:    Translation:Humans
  156. Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, de Menezes MS, Ferri R, Gilles E, Kadom N, Gaillard WD. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 2009 Feb; 50(2):184-94. PMID: 18783433.
    Citations: 43     Fields:    Translation:HumansCells
  157. Knerr I, Gibson KM, Jakobs C, Pearl PL. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr. 2008 Jul; 13(7):598-605. PMID: 18622364.
    Citations: 23     Fields:    Translation:Humans
  158. Hsieh DT, Gropman AL, Pearl PL. A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatr Ann. 2008 Jul; 37(7):459-60, 463. PMID: 18710135.
    Citations:    Fields:    Translation:Humans
  159. Cushner-Weinstein S, Dassoulas K, Salpekar JA, Henderson SE, Pearl PL, Gaillard WD, Weinstein SL. Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy Behav. 2008 Jul; 13(1):109-14. PMID: 18442950.
    Citations: 15     Fields:    Translation:Humans
  160. Pearl PL, Conry JA, Yaun A, Taylor JL, Heffron AM, Sigman M, Tsuchida TN, Elling NJ, Bruce DA, Gaillard WD. Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Pediatr Neurol. 2008 Apr; 38(4):248-51. PMID: 18358402.
    Citations: 2     Fields:    Translation:Humans
  161. Hsieh DT, Walker JM, Pearl PL. Infantile seizures: infants are not just little children. Curr Neurol Neurosci Rep. 2008 Mar; 8(2):139-44. PMID: 18460282.
    Citations: 1     Fields:    Translation:Humans
  162. Knerr I, Pearl PL. Ketogenic diet: stoking energy stores and still posing questions. Exp Neurol. 2008 May; 211(1):11-3. PMID: 18374334.
    Citations: 3     Fields:    Translation:HumansAnimals
  163. Gaillard WD, Berl MM, Moore EN, Ritzl EK, Rosenberger LR, Weinstein SL, Conry JA, Pearl PL, Ritter FF, Sato S, Vezina LG, Vaidya CJ, Wiggs E, Fratalli C, Risse G, Ratner NB, Gioia G, Theodore WH. Atypical language in lesional and nonlesional complex partial epilepsy. Neurology. 2007 Oct 30; 69(18):1761-71. PMID: 17967992.
    Citations: 63     Fields:    Translation:Humans
  164. Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May; 22(5):606-16. PMID: 17690069.
    Citations: 23     Fields:    Translation:Humans
  165. Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis. 2007 Jun; 30(3):279-94. PMID: 17457693.
    Citations: 19     Fields:    Translation:HumansAnimals
  166. Gaillard WD, Weinstein S, Conry J, Pearl PL, Fazilat S, Fazilat S, Vezina LG, Reeves-Tyer P, Theodore WH. Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Neurology. 2007 Feb 27; 68(9):655-9. PMID: 17325271.
    Citations: 7     Fields:    Translation:Humans
  167. Pearl PL, Gospe SM. Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; 30(1):2-4. PMID: 19165905.
    Citations: 4     Fields:    Translation:Humans
  168. Cushner-Weinstein S, Berl M, Salpekar JA, Johnson JL, Pearl PL, Conry JA, Kolodgie M, Scully A, Gaillard WD, Weinstein SL. The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Epilepsy Behav. 2007 Feb; 10(1):170-8. PMID: 17145202.
    Citations: 4     Fields:    Translation:Humans
  169. Pearl PL, Hartka TR, Taylor J. Diagnosis and treatment of neurotransmitter disorders. Curr Treat Options Neurol. 2006 Nov; 8(6):441-50. PMID: 17032564.
    Citations: 4     
  170. Pearl PL, Hartka TR, Cabalza JL, Taylor J, Gibson MK. Inherited disorders of GABA metabolism. Future Neurol. 2006 Sep; 1(5):631-636. PMID: 23842532.
    Citations: 4     
  171. Salpekar JA, Conry JA, Doss W, Cushner-Weinstein S, Pearl PL, Weinstein SL, Gaillard WD. Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. Epilepsy Behav. 2006 Sep; 9(2):327-34. PMID: 16861047.
    Citations: 1     Fields:    Translation:Humans
  172. Pearl PL, McClintock WM. Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AAN. Neurology. 2006 Apr 25; 66(8):1285; author reply 1285. PMID: 16636263.
    Citations:    Fields:    Translation:Humans
  173. Donarum EA, Stephan DA, Larkin K, Murphy EJ, Gupta M, Senephansiri H, Switzer RC, Pearl PL, Snead OC, Jakobs C, Gibson KM. Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2006 Feb; 29(1):143-56. PMID: 16601881.
    Citations: 16     Fields:    Translation:AnimalsCells
  174. Delorme R, Betancur C, Wagner M, Krebs MO, Gorwood P, Pearl P, Nygren G, Durand CM, Buhtz F, Pickering P, Melke J, Ruhrmann S, Anckarsäter H, Chabane N, Kipman A, Reck C, Millet B, Roy I, Mouren-Simeoni MC, Maier W, Råstam M, Gillberg C, Leboyer M, Bourgeron T. Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry. 2005 Dec; 10(12):1059-61. PMID: 16088327; PMCID: PMC2547479.
    Citations: 20     Fields:    Translation:HumansCTClinical Trials
  175. Berl MM, Balsamo LM, Xu B, Moore EN, Weinstein SL, Conry JA, Pearl PL, Sachs BC, Grandin CB, Frattali C, Ritter FJ, Sato S, Theodore WH, Gaillard WD. Seizure focus affects regional language networks assessed by fMRI. Neurology. 2005 Nov 22; 65(10):1604-11. PMID: 16301489.
    Citations: 40