Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis

Biochemical and Biophysical Research Communications

Volumn 348, Issue 2, 2006, Pages 653-661

  Carle, Thomas ^a   Lhuillier, Loïc ^a   Luce, Sandrine ^a   Sternberg, Damien ^b   Devuyst, Olivier ^c   Fontaine, Bertrand ^a,b   Tabti, Nacira ^a  

^a INSERM   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c Louvain Medical School   (Belgium)

Author keywords

Channelopathy; Electrophysiology; HEK cells; Heterologous Na+ channel expression; Hypokalemic periodic paralysis; Mutation; Nav1.4; Patch clamp; SCN4A; Skeletal muscle

Indexed keywords

ARGININE; COMPLEMENTARY DNA; MUTANT PROTEIN; PROTEIN SUBUNIT; SODIUM ION; VOLTAGE GATED SODIUM CHANNEL;

ARTICLE; CHANNEL GATING; DNA TRANSFECTION; ELECTROPHYSIOLOGY; EMBRYO; EMBRYO CELL; GENE MUTATION; HUMAN; HUMAN CELL; HYPOKALEMIC PERIODIC PARALYSIS; KIDNEY CELL; MALE; MISSENSE MUTATION; MUSCLE EXCITATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; SKELETAL MUSCLE; SODIUM CONDUCTANCE; SODIUM CURRENT; WHOLE CELL;

ADULT; AMINO ACID SEQUENCE; ARGININE; GLUTAMINE; HUMANS; HYPOKALEMIC PERIODIC PARALYSIS; ION CHANNEL GATING; MALE; PEDIGREE; POINT MUTATION; SODIUM CHANNELS;

EID: 33746867474     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.07.101     Document Type: Article

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