Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel
about
Treatment for periodic paralysisEpisodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivationPhenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonicaParoxysmal dystonic choreoathetosis: tight linkage to chromosome 2qPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonChannelopathies of skeletal muscle excitabilityGenotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysisAnalysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.Genome-wide scans for candidate genes involved in the aquatic adaptation of dolphins.Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.Why are there so few resistance-associated mutations in insecticide target genes?Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A geneClinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium ChannelopathyNeurological channelopathies: diagnosis and therapy in the new millennium.Unraveling monogenic channelopathies and their implications for complex polygenic diseasePrimary periodic paralyses.A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second geneSodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.The primary periodic paralyses: diagnosis, pathogenesis and treatment.The diagnosis and treatment of myotonic disorders.Diagnosis of skeletal muscle channelopathies.Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.Ion channel mutations in periodic paralysis and related myotonic diseases.Solution structures of the cytoplasmic linkers between segments S4 and S5 (S4-S5) in domains III and IV of human brain sodium channels in SDS micelles.An algorithm for candidate sequencing in non-dystrophic skeletal muscle channelopathies.Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey.Phenotype and genotype in the myotonic disorders.Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.Inherited muscle and brain channelopathies.Sodium Channelopathies of Skeletal Muscle.Opening the gates on ion channel diseases.Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.
P2860
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P2860
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Novel mutations in families wi ...... skeletal muscle sodium channel
@ast
Novel mutations in families wi ...... skeletal muscle sodium channel
@en
Novel mutations in families wi ...... skeletal muscle sodium channel
@en-gb
Novel mutations in families wi ...... skeletal muscle sodium channel
@nl
type
label
Novel mutations in families wi ...... skeletal muscle sodium channel
@ast
Novel mutations in families wi ...... skeletal muscle sodium channel
@en
Novel mutations in families wi ...... skeletal muscle sodium channel
@en-gb
Novel mutations in families wi ...... skeletal muscle sodium channel
@nl
prefLabel
Novel mutations in families wi ...... skeletal muscle sodium channel
@ast
Novel mutations in families wi ...... skeletal muscle sodium channel
@en
Novel mutations in families wi ...... skeletal muscle sodium channel
@en-gb
Novel mutations in families wi ...... skeletal muscle sodium channel
@nl
P2093
P2860
P356
P1433
P1476
Novel mutations in families wi ...... skeletal muscle sodium channel
@en
P2093
A I McClatchey
D McKenna-Yasek
D R Cornblath
H G Worthen
S M DeSilva
P2860
P2888
P304
P356
10.1038/NG1092-148
P407
P577
1992-10-01T00:00:00Z
P6179
1022848553