Associated Papers
Genetics of Autism Spectrum Disorder underscores the role of altered spontaneous neuronal activity as a catalyst for the neurodevelopmental anomalies.
Dey S et al.
Brain Research, 2026
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Carvedilol increases seizure resistance in a mouse model of SCN8A-derived epilepsy.
Wong JC et al.
Frontiers in Pharmacology, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
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
Cannabidiol Increases Seizure Resistance and Improves Behavior in an Scn8a Mouse Model.
Shapiro L et al.
Frontiers in Pharmacology, 2022
Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice.
Yang X et al.
Frontiers in Molecular Neuroscience, 2022
Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model.
Wong JC et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2021
Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.
Wong JC et al.
Frontiers in Pharmacology, 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
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
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM et al.
Epilepsia, 2019
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Liu Y et al.
Brain : a Journal of Neurology, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Rossi M et al.
Pediatric Neurology, 2017
Gaining Awareness of Increasingly Persistent SCN1A Mutations.
Wong JC
Epilepsy Currents, 0