Associated Papers
Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.
Reever CM et al.
The Journal of Clinical Investigation, 2026
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.
Torbati PN et al.
Pediatric Neurology, 2026
Clinical and genetic analysis of epilepsy in children with SCN8A gene variants.
Li R et al.
Seizure, 2026
Longitudinal analyses of electronic medical records reveal dynamic developmental trajectories for patients with SCN8A-related disorders.
Smelser K et al.
Epilepsia, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Deciphering the Natural History of SCN8A-Related Disorders.
Magielski JH et al.
Neurology, 2025
Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.
Balci TB et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 2025
Patients carrying pathogenic SCN8A variants with loss- and gain-of-function effects can be classified into five subgroups exhibiting varying developmental and epileptic components of encephalopathy.
Hack JB et al.
Epilepsia, 2024
Molecular and cellular context influences SCN8A variant function.
Vanoye CG et al.
Jci Insight, 2024
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.
Hack JB et al.
Biology Open, 2024
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.
Chung KM et al.
Epilepsia, 2023
Molecular and Cellular Context Influences SCN8A Variant Function.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2023
SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
Clatot J et al.
Epilepsia, 2023
Cryo-EM structure of human voltage-gated sodium channel Nav1.6.
Fan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs.
Guo QB et al.
Acta Pharmacologica Sinica, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM et al.
Brain : a Journal of Neurology, 2022
CaMKII Inhibition Attenuates Distinct Gain-of-Function Effects Produced by Mutant Nav1.6 Channels and Reduces Neuronal Excitability.
Zybura AS et al.
Cells, 2022
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.
Leduc-Pessah H et al.
Genes, 2022
SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.
Yang XR et al.
Journal of Neurophysiology, 2022
NBI-921352, a first-in-class, NaV1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats.
Johnson JP et al.
Elife, 2022
A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.
Keshri S et al.
Acta Bio-medica : Atenei Parmensis, 2022
SCN8A Encephalopathy: Case Report and Literature Review.
Fan HC et al.
Neurology International, 2021
R1617Q epilepsy mutation slows NaV 1.6 sodium channel inactivation and increases the persistent current and neuronal firing.
Poulin H et al.
The Journal of Physiology, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.
Solé L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Nav 1.6 sodium channels.
Inglis GAS et al.
Genes, Brain, and Behavior, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
Distinct functional alterations in SCN8A epilepsy mutant channels.
Pan Y et al.
The Journal of Physiology, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
Gardella E et al.
Epilepsia, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM et al.
Epilepsia, 2019
The phenotype of SCN8A developmental and epileptic encephalopathy.
Gardella E et al.
Neurology, 2018
Early mortality in SCN8A-related epilepsies.
Johannesen KM et al.
Epilepsy Research, 2018
Early-onset epileptic encephalopathy with de novo SCN8A mutation.
Xiao Y et al.
Epilepsy Research, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.
Fung CW et al.
Epilepsia Open, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017