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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
Author(s) -
Ptacek Louis J.,
Gouw Launce,
Kwieciński Hubert,
McManis Philip,
Mendell Jerry R.,
Barohn Richard J.,
George Aflfred L.,
Barchi Rebert L.,
Robertson Margaret,
Leppert Mark F.
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410330312
Subject(s) - sodium channel , periodic paralysis , myotonia , mutation , phenotype , paralysis , potassium channel , myotonia congenita , medicine , endocrinology , sodium , genetics , biology , chemistry , surgery , gene , organic chemistry , myotonic dystrophy
Abstract Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium‐sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature‐sensitive (paramyotonia congenita [PC]) forms. Recent work has revealed that these disorders result from allelic defects in the x‐subunit of the adult, human skeletal muscle sodium channel. We report an additional mutation, a leucine ‐ arginine substirution in the ss segment of domain 4 (L1433R), that results in the PC phenotype. Five other HYPP and PC families have been ascertained, and previously reported sodium channel mutations have been identified in each. Characterization of these mutartions and phenotypic variations in such familes will contribute to the understanding of sodium channel structure and function relationships, as well as channel malfunction in the periodic paralyses.