Publications


Stamberger H, et al. 2022. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. Neurology (07 2022)

Zybura AS, et al. 2022. CaMKII Inhibition Attenuates Distinct Gain-of-Function Effects Produced by Mutant Nav1.6 Channels and Reduces Neuronal Excitability. Cells (07 2022)

Knowles JK, et al. 2022. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Epilepsia (Jun 2022)

Oliver KL, et al. 2022. Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. EBioMedicine (Jul 2022)

Hammer MF, et al. 2022. Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus. Epilepsia (Aug 2022)

Prelack M, et al. 2022. Visits of concern in child neurology telemedicine. Dev Med Child Neurol (May 2022)

Simkin D, et al. 2022. 'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies. Trends Pharmacol Sci (05 2022)

Echevarria-Cooper DM, et al. 2022. Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice. Hum Mol Genet (Apr 2022)

Gertler TS, et al. 2022. K1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons. Neurobiol Dis (06 2022)

Schwarz N, et al. 2022. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With Pathogenic Variants. Neurology (05 2022)

Simkin D, et al. 2022. Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls. Stem Cell Reports (04 2022)

Vanoye CG, et al. 2022. High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity. JCI Insight (03 2022)

Brunklaus A, et al. 2022. Development and Validation of a Prediction Model for Early Diagnosis of -Related Epilepsies. Neurology (03 2022)

Baez-Nieto D, et al. 2022. Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. Brain (06 2022)

Stefanski A, et al. 2022. Identification and quantification of oligogenic loss-of-function disorders. Genet Med (03 2022)

Ganguly S, et al. 2021. Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy. J Physiol (09 2021)

Zybura A, et al. 2021. Distinctive Properties and Powerful Neuromodulation of Na1.6 Sodium Channels Regulates Neuronal Excitability. Cells (06 2021)

Fitzgerald MP, et al. 2021. Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach. Epilepsia (07 2021)

Lewis-Smith D, et al. 2021. Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data. Eur J Hum Genet (11 2021)

Lewis-Smith D, et al. 2021. Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable. Epilepsia (06 2021)

Hou B, et al. . Loss of KCNQ2 or KCNQ3 Leads to Multifocal Time-Varying Activity in the Neonatal Forebrain . eNeuro ()

Springer K, et al. 2021. Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders. Dev Neurosci (2021)

Crawford K, et al. 2021. Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders. Genet Med (07 2021)

Varghese N, et al. 2021. KCNQ3 is the principal target of retigabine in CA1 and subicular excitatory neurons. J Neurophysiol (04 2021)

Simkin D, et al. 2021. Dyshomeostatic modulation of Ca-activated K channels in a human neuronal model of KCNQ2 encephalopathy. Elife (02 2021)

DeKeyser JM, et al. . Cryptic prokaryotic promoters explain instability of recombinant neuronal sodium channels in bacteria. J Biol Chem ()

Hawkins NA, et al. 2021. Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant. Neurobiol Dis (01 2021)

Galer PD, et al. 2020. Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. Am J Hum Genet (10 2020)

Ganesan S, et al. 2020. A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation. Genet Med (12 2020)

Adney SK, et al. 2020. Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy. Ann Clin Transl Neurol (09 2020)

Helbig I, et al. 2020. Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome. Ann Clin Transl Neurol (08 2020)

Zybura AS, et al. 2020. CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability. J Biol Chem (08 2020)

Helbig I, Ellis CA. 2020. Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers. Neuropharmacology (08 2020)

Mason ER, Cummins TR. 2020. Differential Inhibition of Human Nav1.2 Resurgent and Persistent Sodium Currents by Cannabidiol and GS967. Int J Mol Sci (Apr 2020)

Lewis-Smith D, et al. 2020. Early-onset genetic epilepsies reaching adult clinics. Brain (03 2020)

Ghoshal A, et al. 2020. Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits. Transl Psychiatry (01 2020)

Thompson CH, et al. 2020. Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants. J Gen Physiol (03 2020)

Pan Y, Cummins TR. 2020. Distinct functional alterations in SCN8A epilepsy mutant channels. J Physiol (01 2020)

Kang SK, et al. 2019. Spectrum of K 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Ann Neurol (12 2019)

Gertler TS, et al. 2019. Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy. Ann Clin Transl Neurol (09 2019)

Mason ER, et al. . Resurgent and Gating Pore Currents Induced by Epilepsy Mutations. eNeuro ()

Zaman T, et al. 2019. A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization. Ann Clin Transl Neurol (08 2019)

Helbig I, et al. 2018. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat (11 2018)

Yanling Pan, Theodore R. Cummins, Distinct functional alterations in SCN8A epilepsy mutant channels. J Physiol. 2019