NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Brain

Volumn 137, Issue 4, 2014, Pages 998-1008

  Groome, James R ^a   Lehmann Horn, Frank ^b,c   Fan, Chunxiang ^b   Wolf, Markus ^b   Winston, Vern ^a   Merlini, Luciano ^d   Jurkat Rott, Karin ^b,c  

^a Nucl Eng Idaho State University   (United States)

^b UNIVERSITY OF ULM   (Germany)

^c UNIVERSITY HOSPITAL ULM   (Germany)

^d RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

hypokalaemic periodic paralysis; molecular dynamics; omega pore current; sodium channel; voltage sensor

Indexed keywords

ARGININE DERIVATIVE; POTASSIUM; SODIUM CHANNEL NAV1.4; SCN4A PROTEIN, HUMAN; SODIUM CHANNEL;

ACTION POTENTIAL; ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; DEPOLARIZATION; ELECTROPHYSIOLOGICAL PROCEDURES; FEMALE; HETEROLOGOUS EXPRESSION; HUMAN; HUMAN CELL; HYPOKALEMIC PERIODIC PARALYSIS; IMMOBILIZATION; IN VITRO STUDY; MALE; MEMBRANE STEADY POTENTIAL; MIDDLE AGED; MOLECULAR DYNAMICS; MUSCLE CELL; MUSCLE WEAKNESS; MUTATION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; REPOLARIZATION; SODIUM CURRENT; WHOLE CELL PATCH CLAMP; YOUNG ADULT; ADOLESCENT; ANIMAL; GENETIC TRANSFECTION; GENETICS; HYPOKALAEMIC PERIODIC PARALYSIS; METABOLISM; OMEGA PORE CURRENT; PATCH CLAMP TECHNIQUE; PATHOPHYSIOLOGY; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; SKELETAL MUSCLE; VOLTAGE SENSOR;

HYPOKALAEMIC PERIODIC PARALYSIS; MOLECULAR DYNAMICS; OMEGA PORE CURRENT; SODIUM CHANNEL; VOLTAGE SENSOR;

ACTION POTENTIALS; ADOLESCENT; ANIMALS; FEMALE; HUMANS; HYPOKALEMIC PERIODIC PARALYSIS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTAGENESIS, SITE-DIRECTED; MUTATION; NAV1.4 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; PEDIGREE; RATS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSFECTION; YOUNG ADULT;

EID: 84897901479     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu015     Document Type: Article

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