Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans
about
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunctionFunctional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humansPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonSodium channel carboxyl-terminal residue regulates fast inactivation.Channelopathies: ion channel defects linked to heritable clinical disorders.The tarantula toxins ProTx-II and huwentoxin-IV differentially interact with human Nav1.7 voltage sensors to inhibit channel activation and inactivation.Genetic disorders of neuromuscular ion channels.The primary periodic paralyses: diagnosis, pathogenesis and treatment.A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.A hot topic: temperature sensitive sodium channelopathies.Skeletal muscle na channel disorders.Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.Outer and central charged residues in DIVS4 of skeletal muscle sodium channels have differing roles in deactivation.Open- and closed-state fast inactivation in sodium channels: differential effects of a site-3 anemone toxin.Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block.N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.
P2860
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P2860
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Characterization of a new sodi ...... ramyotonia congenita in humans
@ast
Characterization of a new sodi ...... ramyotonia congenita in humans
@en
Characterization of a new sodi ...... ramyotonia congenita in humans
@nl
type
label
Characterization of a new sodi ...... ramyotonia congenita in humans
@ast
Characterization of a new sodi ...... ramyotonia congenita in humans
@en
Characterization of a new sodi ...... ramyotonia congenita in humans
@nl
prefLabel
Characterization of a new sodi ...... ramyotonia congenita in humans
@ast
Characterization of a new sodi ...... ramyotonia congenita in humans
@en
Characterization of a new sodi ...... ramyotonia congenita in humans
@nl
P2093
P2860
P1476
Characterization of a new sodi ...... ramyotonia congenita in humans
@en
P2093
H Kwiecinski
L J Ptácek
S Bendahhou
S G Waxman
T R Cummins
P2860
P304
P356
10.1111/J.1469-7793.1999.0337P.X
P407
P478
518 ( Pt 2)
P577
1999-07-15T00:00:00Z