Associated Papers
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
Cortical versus hippocampal network dysfunction in a human brain assembloid model of epilepsy and intellectual disability.
McCrimmon CM et al.
Cell Reports, 2025
Modeling Cortical Versus Hippocampal Network Dysfunction in a Human Brain Assembloid Model of Epilepsy and Intellectual Disability.
McCrimmon CM et al.
Biorxiv : the Preprint Server for Biology, 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
In vitro effects of eslicarbazepine (S-licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders.
Bayraktar E et al.
British Journal of Pharmacology, 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
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM et al.
Brain : a Journal of Neurology, 2022
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 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
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.
Kim HJ et al.
Epilepsy Research, 2019
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
Gardella E et al.
Epilepsia, 2019
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
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
Wagnon JL et al.
Annals of Clinical and Translational Neurology, 2016
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
Wagnon JL et al.
Frontiers in Neurology, 2015