[Familial hyperkalemic periodic paralysis: a brief review of the adult human skeletal muscle sodium channel and the application of LA-PCR to the SCN4A gene analysis].
Recent work has revealed that familial hyperkalemic periodic paralysis, paramyotonia congenita and other non-dystrophic myotonias result from point mutations in the gene encoding the alpha-subunit of the adult human skeletal muscle sodium channel (SCN4A). Sodium channel myotonias are a diverse group of skeletal muscle disorders that share a common pathophysiological mechanism: all are caused by impaired rapid inactivation of skeletal muscle sodium channel. Clinical studies, pharmacology, electrophysiology and molecular genetics have contributed to an elucidation of the genotype-phenotype correlation within these disorders. This article briefly reviews recent advances in our understanding of skeletal muscle sodium channel and sodium channel myotonias. The application of LA-PCR to the SCN4A gene analysis is also referred.
Sakoda
S
S
Department of Neurology, Shonan Hospital.
Nakagawa
M
M
Arimura
Y
Y
Arimura
K
K
Osame
M
M
D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006947:Hyperkalemia / Q000235:genetics*; D010245:Paralyses, Familial Periodic / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D015220:Calcium Channels; C093712:Cacna1d protein, rat