title: [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].
abstract: 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.
authors.affiliation: Department of Neurology, Shonan Hospital.
authors.forename: S
authors.initials: S
authors.lastname: Sakoda
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Arimura
authors.forename: K
authors.initials: K
authors.lastname: Arimura
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: 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
chemical_list: D015220:Calcium Channels; C093712:Cacna1d protein, rat