A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes

Abstract Mutations in the pore-forming subunit of the skeletal muscle sodium channel ( SCN4A ) are responsible for hyperkalemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are classified based on their cardinal symptoms, myotonia and/or paralysis. We repor...

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Veröffentlicht in:	Journal of the neurological sciences 2012-04, Vol.315 (1), p.15-19
Hauptverfasser:	Yoshinaga, Harumi, Sakoda, Shunichi, Good, Jean-Marc, Takahashi, Masanori P, Kubota, Tomoya, Arikawa-Hirasawa, Eri, Nakata, Tomohiko, Ohno, Kinji, Kitamura, Tetsuro, Kobayashi, Katsuhiro, Ohtsuka, Yoko
Format:	Artikel
Sprache:	eng
Schlagworte:	Activation Biological and medical sciences Channelopathy Child Diseases of striated muscles. Neuromuscular diseases Humans Male Medical sciences Mutation - genetics Myotonia - complications Myotonia - diagnosis Myotonia - genetics Na channel NAV1.4 Voltage-Gated Sodium Channel - genetics Neurology Paralysis - complications Paralysis - diagnosis Paralysis - genetics Schwarz–Jampel syndrome SCN4A Severity of Illness Index Skeletal muscle Slow inactivation
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