Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’
about
Overview of the voltage-gated sodium channel familyVoltage-gated Nav channel targeting in the heart requires an ankyrin-G dependent cellular pathwayDe novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancyNociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain[Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of RanvierSodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapsesAnkyrinG is required for clustering of voltage-gated Na channels at axon initial segments and for normal action potential firingDefective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathiesResurgent current of voltage-gated Na(+) channelsEfficient enzymatic cyclization of an inhibitory cystine knot-containing peptideSelective blocking effects of 4,9-anhydrotetrodotoxin, purified from a crude mixture of tetrodotoxin analogues, on NaV1.6 channels and its chemical aspectsDe novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEPDe novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyExpression of skeletal muscle-type voltage-gated Na+ channel in rat and human prostate cancer cell linesAnalysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular traffickingThe transmembrane inner ear (tmie) gene contributes to vestibular and lateral line development and function in the zebrafish (Danio rerio).Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.Electrical remodeling of preoptic GABAergic neurons involves the Kv1.5 subunit.Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral NodesEpileptogenesis in the immature brain: emerging mechanisms.A comparison of the potential role of the tetrodotoxin-insensitive sodium channels, PN3/SNS and NaN/SNS2, in rat models of chronic pain.Diversity of mammalian voltage-gated sodium channels.Functional reciprocity between Na+ channel Nav1.6 and beta1 subunits in the coordinated regulation of excitability and neurite outgrowth.Loss of Navβ4-Mediated Regulation of Sodium Currents in Adult Purkinje Neurons Disrupts Firing and Impairs Motor Coordination and Balance.Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory.Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6).Channelopathies: ion channel defects linked to heritable clinical disorders.Synthesis and analgesic effects of μ-TRTX-Hhn1b on models of inflammatory and neuropathic pain.Sodium channels and neurological disease: insights from Scn8a mutations in the mouse.Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles miceFunctional properties and differential neuromodulation of Na(v)1.6 channels.Independent and joint modulation of rat Nav1.6 voltage-gated sodium channels by coexpression with the auxiliary β1 and β2 subunitsNav1.7 is the predominant sodium channel in rodent olfactory sensory neurons.The phenotypic spectrum of SCN8A encephalopathy.Animal models of dystonia: Lessons from a mutant rat.Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
P2860
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P2860
Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’
description
1995 nî lūn-bûn
@nan
1995 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@ast
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@en
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@nl
type
label
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@ast
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@en
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@nl
prefLabel
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@ast
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@en
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutation of a new sodium chann ...... utant ‘motor endplate disease’
@en
P2093
Daniel L. Burgess
David C. Kohrman
James Galt
Julie M. Jones
Miriam H. Meisler
Nicholas W. Plummer
P2860
P2888
P304
P3181
P356
10.1038/NG0895-461
P407
P577
1995-08-01T00:00:00Z