Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
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Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotoniaA1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivationA C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivationMolecular basis for decreased muscle chloride conductance in the myotonic goatA missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunctionCharacterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humansFunctional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humansSingle-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsyPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonTranslational approach to address therapy in myotonia permanens due to a new SCN4A mutationChannelopathies of skeletal muscle excitabilityNav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders?Class A calcium channel variants in pancreatic islets and their role in insulin secretionNeuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient miceWhy are there so few resistance-associated mutations in insecticide target genes?The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A geneCold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.Inherited disorders of voltage-gated sodium channels.Mutation of conserved negatively charged residues in the S2 and S3 transmembrane segments of a mammalian K+ channel selectively modulates channel gatingInteraction between the sodium channel inactivation linker and domain III S4-S5.Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis.The tarantula toxins ProTx-II and huwentoxin-IV differentially interact with human Nav1.7 voltage sensors to inhibit channel activation and inactivation.Molecular determinants of state-dependent block of voltage-gated sodium channels by pilsicainide.Genetic disorders of neuromuscular ion channels.Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotoniaA double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.Myasthenic syndrome caused by mutation of the SCN4A sodium channelIon channel gene expression predicts survival in glioma patients.Pathophysiological role of omega pore current in channelopathiesSodium channel inactivation: molecular determinants and modulation.Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linkerMolecular analysis of the putative inactivation particle in the inactivation gate of brain type IIA Na+ channels.Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel.The Na+ channel inactivation gate is a molecular complex: a novel role of the COOH-terminal domain.Movement and crevices around a sodium channel S3 segment.Calmodulin regulation of Nav1.4 current: role of binding to the carboxyl terminus.Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome.
P2860
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P2860
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Sodium channel mutations in pa ...... ophysical phenotypes in vitro.
@ast
Sodium channel mutations in pa ...... ophysical phenotypes in vitro.
@en
type
label
Sodium channel mutations in pa ...... ophysical phenotypes in vitro.
@ast
Sodium channel mutations in pa ...... ophysical phenotypes in vitro.
@en
prefLabel
Sodium channel mutations in pa ...... ophysical phenotypes in vitro.
@ast
Sodium channel mutations in pa ...... ophysical phenotypes in vitro.
@en
P2093
P2860
P356
P1476
Sodium channel mutations in pa ...... ophysical phenotypes in vitro.
@en
P2093
A L George
L J Ptácek
R L Barchi
P2860
P304
12785-12789
P356
10.1073/PNAS.91.26.12785
P407
P577
1994-12-01T00:00:00Z