Associated Papers
A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies.
Dame HB et al.
Biorxiv : the Preprint Server for Biology, 2025
Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome.
Zhao X et al.
Epilepsy & Behavior : E&b, 2024
SCN8A Encephalopathy: Case Report and Literature Review.
Fan HC et al.
Neurology International, 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
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E et al.
Annals of Neurology, 2016
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
Wagnon JL et al.
Frontiers in Neurology, 2015
Select a paper to view details