Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 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
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann A et al.
Molecular Medicine (cambridge, Mass.), 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Lauxmann S et al.
Human Mutation, 2018
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.
Liu XW et al.
Clinical Neurology and Neurosurgery, 2018
VarCards: an integrated genetic and clinical database for coding variants in the human genome.
Li J et al.
Nucleic Acids Research, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.
Holland KD et al.
Epilepsia, 2017
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL et al.
Epilepsia, 2014
PRRT2 mutations and paroxysmal disorders.
Méneret A et al.
European Journal of Neurology, 2013
High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy.
Makoff A et al.
Epilepsia, 2010
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
Liability of the voltage-gated sodium channel gene SCN2A R19K polymorphism to oxaliplatin-induced peripheral neuropathy.
Argyriou AA et al.
Oncology, 2009
Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures.
Xiumin Wang et al.
Journal of Child Neurology, 2007
Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.
Scalmani P et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Phenotypes and genotypes in epilepsy with febrile seizures plus.
Ito M et al.
Epilepsy Research, 2006
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.
Burgess DL
Epilepsia, 2005
Seizure phenotypes of a family with missense mutations in SCN2A.
Ito M et al.
Pediatric Neurology, 2004
Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.
Nakayama J et al.
Neuroscience Letters, 2002
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
Sugawara T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2001