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One or more keywords matched the following items that are connected to Poduri, Annapurna
Item TypeName
Academic Article Nocturnal choking episodes: under-recognized and misdiagnosed.
Academic Article Rufinamide for the treatment of epileptic spasms.
Academic Article Expect the unexpected in epilepsy genetics: mutations in an epilepsy gene considered to be benign result in a severe phenotype.
Academic Article Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
Academic Article Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia.
Academic Article Experience with rufinamide in a pediatric population: a single center's experience.
Academic Article Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Academic Article Epilepsy genetics--past, present, and future.
Academic Article Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Academic Article Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases.
Academic Article Focal cortical dysplasia is more common in boys than in girls.
Academic Article Oxcarbazepine in children with nocturnal frontal-lobe epilepsy.
Concept Epilepsy, Frontal Lobe
Concept Epilepsies, Myoclonic
Concept Epilepsies, Partial
Concept Myoclonic Epilepsy, Juvenile
Concept Epilepsy
Concept Epilepsy, Benign Neonatal
Concept Epilepsy, Generalized
Academic Article Electrode localization for planning surgical resection of the epileptogenic zone in pediatric epilepsy.
Academic Article Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
Academic Article Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project.
Academic Article Reply: To PMID 24243345.
Academic Article The epilepsy phenome/genome project.
Academic Article SLC25A22 is a novel gene for migrating partial seizures in infancy.
Academic Article Genetic testing in the epilepsies-developments and dilemmas.
Academic Article DEPDC5 does it all: shared genetics for diverse epilepsy syndromes.
Academic Article Clobazam: effect on frequency of seizures and safety profile in different subgroups of children with epilepsy.
Academic Article Copy number variation plays an important role in clinical epilepsy.
Academic Article Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience.
Academic Article Surgery for intractable epilepsy due to unilateral brain disease: a retrospective study comparing hemispherectomy techniques.
Academic Article Genetic forms of epilepsies and other paroxysmal disorders.
Academic Article A channel for precision diagnosis and treatment in genetic epilepsy.
Academic Article Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Academic Article HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy.
Academic Article The genetics of the epilepsies.
Academic Article Rasmussen's encephalitis presenting as focal cortical dysplasia.
Academic Article Megalencephaly and Macrocephaly.
Academic Article Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Academic Article Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy.
Academic Article Mutations in KCNT1 cause a spectrum of focal epilepsies.
Academic Article Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Academic Article Comparison of Drug Utilization Patterns in Observational Data: Antiepileptic Drugs in Pediatric Patients.
Academic Article SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Academic Article Juvenile myoclonic epilepsy and narcolepsy: A series of three cases.
Academic Article Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
Academic Article The Expanding SCN8A-Related Epilepsy Phenotype.
Academic Article Effectiveness of once-daily high-dose ACTH for infantile spasms.
Academic Article Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings.
Academic Article Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish.
Grant Genetics of Familial Epilepsy Syndromes
Academic Article De novo GABRG2 mutations associated with epileptic encephalopathies.
Academic Article A Model Program for Translational Medicine in Epilepsy Genetics.
Academic Article The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.
Academic Article When Should Genetic Testing Be Performed in Epilepsy Patients?
Grant Expert Panel: Genetics of Malformations of the Central Nervous System
Academic Article De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Academic Article A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Academic Article Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Grant PCDH19-related Epilepsy-Human Genotype-Phenotype Studies Lead to Zebrafish Studies
Academic Article A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.
Academic Article Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Academic Article PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Academic Article HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion.
Academic Article A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Academic Article Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Academic Article Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?
Academic Article Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.
Academic Article Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.
Academic Article De novo variants in neurodevelopmental disorders with epilepsy.
Academic Article Return of individual results in epilepsy genomic research: A view from the field.
Academic Article The landscape of epilepsy-related GATOR1 variants.
Academic Article Correction to: The landscape of epilepsy-related GATOR1 variants.
Academic Article Correction: The landscape of epilepsy-related GATOR1 variants.
Academic Article The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Academic Article De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Academic Article Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
Grant Genetics of Sudden Unexpected Death in Pediatrics
Academic Article Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Academic Article Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Academic Article A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Academic Article Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice.
Academic Article Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.
Academic Article Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.
Academic Article Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
Academic Article The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Mentoring - Current Student Opportunity Genetics of Epilepsy--Human and Zebrafish Studies
Academic Article BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
Academic Article The Benchmarks: Progress and Emerging Priorities in Epilepsy Research.
Academic Article Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression.
Academic Article Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Academic Article Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects.
Academic Article Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions.
Academic Article Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span.
Academic Article Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Academic Article Mortality in infantile spasms: A hospital-based study.
Academic Article Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force.
Academic Article Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab.
Academic Article The role of sodium channels in sudden unexpected death in pediatrics.
Academic Article Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.
Academic Article Gene tests in adults with epilepsy and intellectual disability.
Academic Article Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
Academic Article Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
Academic Article A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Academic Article Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
Academic Article CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Academic Article Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
Academic Article Precision Therapy for Epilepsy Related to Brain Malformations.
Academic Article Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours.
Search Criteria
  • epilepsy
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.