Associated Papers
Epilepsy-Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties.
Liebovitz LN et al.
Annals of Clinical and Translational Neurology, 2026
Epilepsy-associated Variants of a Single SCN1A Codon exhibit Divergent Functional Properties.
Liebovitz LN et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Update on neonatal and infantile onset epilepsies.
Carapancea E et al.
Current Opinion in Pediatrics, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.
Hieu NLT et al.
American Journal of Medical Genetics. Part A, 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
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
Stringer RN et al.
Molecular Brain, 2021
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 2021
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
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
Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.
Tidball AM et al.
Brain : a Journal of Neurology, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
Gardella E et al.
Epilepsia, 2019
Prominent role of forebrain excitatory neurons in SCN8A encephalopathy.
Bunton-Stasyshyn RKA et al.
Brain : a Journal of Neurology, 2019
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Liu Y et al.
Brain : a Journal of Neurology, 2019
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.
Pons L et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates S et al.
Npj Genomic Medicine, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Phenytoin as a last-resort treatment in SCN8A encephalopathy.
Braakman HM et al.
Epilepsia Open, 2017
Altered gene expression profile in a mouse model of SCN8A encephalopathy.
Sprissler RS et al.
Experimental Neurology, 2017
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Butler KM et al.
Epilepsy Research, 2017
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.
Barker BS et al.
Epilepsia, 2016
Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol.
Patel RR et al.
Brain : a Journal of Neurology, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
Singh R et al.
Seizure, 2015
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
Wagnon JL et al.
Frontiers in Neurology, 2015
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U et al.
Journal of Child Neurology, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C et al.
Epilepsia, 2014