A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

Generalized epilepsy with febrile seizures plus (GEFS+), a clinical subset of febrile seizures (FS), is characterized by frequent episodes beyond 6 years of age (FS+) and various types of subsequent epilepsy. Mutations in β1 and α I -subunit genes of voltage-gated Na + channels have been associated...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2001-05, Vol.98 (11), p.6384-6389
Hauptverfasser:	Sugawara, Takashi, Tsurubuchi, Yuji, Agarwala, Kishan Lal, Ito, Masatoshi, Fukuma, Goryu, Mazaki-Miyazaki, Emi, Nagafuji, Hiroshi, Noda, Masaharu, Imoto, Keiji, Wada, Kazumaru, Mitsudome, Akihisa, Kaneko, Sunao, Montal, Mauricio, Nagata, Keiichi, Hirose, Shinichi, Yamakawa, Kazuhiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological Sciences
Online-Zugang:	Volltext
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