Publications


Clatot J, et al. 2022. A KCNC1-related neurological disorder due to gain of Kv3.1 function. Ann Clin Transl Neurol (Nov 2022)

Mazzaferro S, et al. 2022. Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening. Int J Mol Sci (Oct 2022)

Clatot J, et al. 2022. SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy. Epilepsia (Oct 2022)

Seiffert S, et al. 2022. Modulating effects of FGF12 variants on Na1.2 and Na1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. EBioMedicine (Sep 2022)

Gavazzi F, et al. 2022. Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN). Mol Genet Metab (2022)

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

Jacobwitz M, et al. 2022. Ketamine for Management of Neonatal and Pediatric Refractory Status Epilepticus. Neurology (Sep 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 (Jul 2022)

Akbari H, et al. 2022. Genetic Testing and Hospital Length of Stay in Neonates With Epilepsy. Pediatr Neurol (Aug 2022)

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

Brunklaus A, et al. 2022. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain (Nov 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 (Nov 2022)

Lewis-Smith D, et al. 2022. Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery. Hum Mutat (Nov 2022)

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

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

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

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

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

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

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

Johannesen KM, et al. 2022. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain (Sep 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 (Sep 2021)

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

Hou B, et al. 2021. Loss of KCNQ2 or KCNQ3 Leads to Multifocal Time-Varying Activity in the Neonatal Forebrain . eNeuro (2021)

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 (Jul 2021)

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

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

DeKeyser JM, et al. 2021. Cryptic prokaryotic promoters explain instability of recombinant neuronal sodium channels in bacteria. J Biol Chem (2021)

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

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

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

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

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

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

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

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

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

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

Mason ER, et al. 2019. Resurgent and Gating Pore Currents Induced by Epilepsy Mutations. eNeuro (2019)

Zaman T, et al. 2019. A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization. Ann Clin Transl Neurol (Aug 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 (Nov 2018)

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