Associated Papers
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
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.
Echevarria-Cooper DM et al.
Human Molecular Genetics, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G et al.
Communications Biology, 2022
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.
Liang L et al.
Genome Medicine, 2021
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The neonatal SCN2A mutant channel mimics adult channel properties.
Muller GK
The Journal of General Physiology, 2020
Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.
Thompson CH et al.
The Journal of General Physiology, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Molecular basis for pore blockade of human Na+ channel Nav1.2 by the μ-conotoxin KIIIA.
Pan X et al.
Science (new York, N.y.), 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.
Zerem A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014