Associated Papers
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
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
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
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann A et al.
Molecular Medicine (cambridge, Mass.), 2019
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Lauxmann S et al.
Human Mutation, 2018
Progress in Understanding and Treating SCN2A-Mediated Disorders.
Sanders SJ et al.
Trends in Neurosciences, 2018
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
Berecki G et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
Ben-Shalom R et al.
Biological Psychiatry, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Tracks through the genome to physiological events.
Lipscombe D et al.
Experimental Physiology, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
Genotype phenotype associations across the voltage-gated sodium channel family.
Brunklaus A et al.
Journal of Medical Genetics, 2014
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
Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment.
Vacher H et al.
Epilepsia, 2012
Sodium channels and the neurobiology of epilepsy.
Oliva M et al.
Epilepsia, 2012
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
Liao Y et al.
Brain : a Journal of Neurology, 2010
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
Misra SN et al.
Epilepsia, 2008
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
Xu R et al.
Molecular and Cellular Neurosciences, 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
A novel SCN2A mutation in family with benign familial infantile seizures.
Striano P et al.
Epilepsia, 2006
Seizure phenotypes of a family with missense mutations in SCN2A.
Ito M et al.
Pediatric Neurology, 2004
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Berkovic SF et al.
Annals of Neurology, 2004
Channelopathies as a genetic cause of epilepsy.
Mulley JC et al.
Current Opinion in Neurology, 2003
Sodium-channel defects in benign familial neonatal-infantile seizures.
Heron SE et al.
Lancet (london, England), 2002