A novel dominant mutation of the Nav1.4 α-subunit domain i leading to sodium channel myotonia

Neurology

Volumn 71, Issue 21, 2008, Pages 1669-1675

  Petitprez, S ^a   Tiab, L ^a   Chen, L ^b   Kappeler, L ^c   Rosler K M ^c   Schorderet, D ^a,d   Abriel, H ^a   Burgunder, J M ^c,e,f  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c UNIVERSITY OF BERN   (Switzerland)

^d EPFL   (Switzerland)

^e Dept Medicine Endocrinol Diabet   (Singapore)

^f Neurology Office   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL; ISOLEUCINE; PROTEIN SUBUNIT; SCN4A PROTEIN, HUMAN; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ADULT; ALPHA CHAIN; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DOMINANT GENE; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; HUMAN; MENTAL STRESS; MOVEMENT (PHYSIOLOGY); MYOTONIA; PATCH CLAMP; PHENOTYPE; PHYSICAL ACTIVITY; PREGNANCY; PRIORITY JOURNAL; SODIUM CHANNELOPATHY; TEMPERATURE; WILD TYPE; CELL LINE; CELL MEMBRANE POTENTIAL; FAMILY HEALTH; FEMALE; GENETIC TRANSFECTION; GENETICS; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY;

CELL LINE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; ISOLEUCINE; MEMBRANE POTENTIALS; MUTATION; MYOTONIA; PROTEIN SUBUNITS; SODIUM CHANNELS; TRANSFECTION; VALINE;

EID: 58149230098     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000335168.86248.55     Document Type: Article

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