Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
about
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden deathCharacterization of a de novo SCN8A mutation in a patient with epileptic encephalopathyExcitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum DisordersTrafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segmentCellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channelsEpileptic encephalopathies: new genes and new pathwaysAnalysis of the Structural and Molecular Basis of Voltage-sensitive Sodium Channel Inhibition by the Spider Toxin Huwentoxin-IV ( -TRTX-Hh2a)Crystal Structure of the Ternary Complex of a NaV C-Terminal Domain, a Fibroblast Growth Factor Homologous Factor, and CalmodulinDe novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEPCalcium Imaging of Neuronal Activity in Drosophila Can Identify Anticonvulsive CompoundsInteraction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1bNOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure.De novo mutations revealed by whole-exome sequencing are strongly associated with autismVoltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq.Clinical review of genetic epileptic encephalopathiesMapping genetic modifiers of survival in a mouse model of Dravet syndrome.Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders.Differential effects of common variants in SCN2A on general cognitive ability, brain physiology, and messenger RNA expression in schizophrenia cases and control individuals.Molecular identity of axonal sodium channels in human cortical pyramidal cellsUse of stem cell transplantation to treat epilepsy: A Web of Science-based literature analysisSodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.Induced pluripotent stem cells: a new tool to confront the challenge of neuropsychiatric disordersNovel SCN1A mutation in a proband with malignant migrating partial seizures of infancyTau reduction prevents disease in a mouse model of Dravet syndromeDravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsyRefinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathyA null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heartEpilepsy as a neurodevelopmental disorder.PharmGKB summary: phenytoin pathway.Functional interaction between S1 and S4 segments in voltage-gated sodium channels revealed by human channelopathiesFine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-SeqAdvances in epilepsy genetics and genomics.Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome.Multiple sodium channel variants in the mosquito Culex quinquefasciatus.Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.
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P2860
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 29 March 2010
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
@en
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
@nl
type
label
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
@en
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
@nl
prefLabel
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
@en
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
@nl
P2093
P2860
P1476
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
@en
P2093
Janelle E O'Brien
Lisa M Sharkey
Miriam H Meisler
P2860
P304
P356
10.1113/JPHYSIOL.2010.188482
P407
P577
2010-03-29T00:00:00Z