A calcium channel mutation causing hypokalemic periodic paralysis
about
Treatment for periodic paralysisMutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysisMuscle channelopathies and critical points in functional and genetic studies.Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian familiesParoxysmal dystonic choreoathetosis: tight linkage to chromosome 2qGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Channelopathies of skeletal muscle excitabilityIdentification of new polymorphisms in the CACNA1S geneCalcium currents and transients in co-cultured contracting normal and Duchenne muscular dystrophy human myotubesThe Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic ParalysisNeurological channelopathies.The role of CACNA1S in predisposition to malignant hyperthermiaA Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G)Neuromuscular disease and calcium channels.Investigation of muscle disease.Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysisGenetics and pathogenesis of malignant hyperthermia.Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.Analysis of dominant mutations affecting muscle excitation in Caenorhabditis elegansSkeletal muscle sodium current is reduced in hypokalemic periodic paralysisA new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.Primary periodic paralyses.Genetic disorders of neuromuscular ion channels.Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotoniaRecent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies.Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotypeHypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.Ion channels: function unravelled by dysfunction.Incidental medical information in whole-exome sequencing.Pathophysiological role of omega pore current in channelopathiesMolecular biology of channelopathies: impact on diagnosis and treatment.The primary periodic paralyses: diagnosis, pathogenesis and treatment.A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore.The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patientsA calcium channel mutant mouse model of hypokalemic periodic paralysisHypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.
P2860
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P2860
A calcium channel mutation causing hypokalemic periodic paralysis
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
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
name
A calcium channel mutation causing hypokalemic periodic paralysis
@ast
A calcium channel mutation causing hypokalemic periodic paralysis
@en
A calcium channel mutation causing hypokalemic periodic paralysis
@nl
type
label
A calcium channel mutation causing hypokalemic periodic paralysis
@ast
A calcium channel mutation causing hypokalemic periodic paralysis
@en
A calcium channel mutation causing hypokalemic periodic paralysis
@nl
prefLabel
A calcium channel mutation causing hypokalemic periodic paralysis
@ast
A calcium channel mutation causing hypokalemic periodic paralysis
@en
A calcium channel mutation causing hypokalemic periodic paralysis
@nl
P2093
P356
P1476
A calcium channel mutation causing hypokalemic periodic paralysis
@en
P2093
F Lehmann-Horn
J E Vale-Santos
K Jurkat-Rott
P A Powers
P304
P356
10.1093/HMG/3.8.1415
P407
P577
1994-08-01T00:00:00Z