Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonTranslational approach to address therapy in myotonia permanens due to a new SCN4A mutationNovel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.Focal and abnormally persistent paralysis associated with congenital paramyotoniaMutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disordersActions of KMUP-1, a xanthine and piperazine derivative, on voltage-gated Na(+) and Ca(2+) -activated K(+) currents in GH3 pituitary tumour cells.Voltage-sensor movements describe slow inactivation of voltage-gated sodium channels I: wild-type skeletal muscle Na(V)1.4.Voltage-sensor movements describe slow inactivation of voltage-gated sodium channels II: a periodic paralysis mutation in Na(V)1.4 (L689I)Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.Sodium channelopathies of skeletal muscle result from gain or loss of function.A hot topic: temperature sensitive sodium channelopathies.Diagnosis of skeletal muscle channelopathies.Mutational consequences of aberrant ion channels in neurological disorders.Skeletal muscle na channel disorders.Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia.State of the art in hereditary muscle channelopathies.A thermosensitive mutation alters the effects of lacosamide on slow inactivation in neuronal voltage-gated sodium channels, NaV1.2.N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels.Gating Pore Currents in Sodium ChannelsStudy protocol for the MEXiletine hydrochloride administration trial: a placebo-controlled, randomised, double-blind, multicentre, crossover study of its efficacy and safety in spinal and bulbar muscular atrophy (MEXPRESS)
P2860
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P2860
Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Cold-induced defects of sodium ...... iodic paralysis plus myotonia.
@ast
Cold-induced defects of sodium ...... iodic paralysis plus myotonia.
@en
type
label
Cold-induced defects of sodium ...... iodic paralysis plus myotonia.
@ast
Cold-induced defects of sodium ...... iodic paralysis plus myotonia.
@en
prefLabel
Cold-induced defects of sodium ...... iodic paralysis plus myotonia.
@ast
Cold-induced defects of sodium ...... iodic paralysis plus myotonia.
@en
P2860
P1433
P1476
Cold-induced defects of sodium ...... iodic paralysis plus myotonia.
@en
P2093
Jadon Webb
Stephen C Cannon
P2860
P304
P356
10.1212/01.WNL.0000265397.70057.D8
P407
P577
2007-09-26T00:00:00Z