Article
A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 21 Apr 2010
Mashimo Tomoji, Ohmori Iori, Ouchida Mamoru, Ohno Yukihiro, Tsurumi Toshiko, Miki Takafumi, Wakamori Minoru, Ishihara Shizuka, Yoshida Takashi, Takizawa Akiko, Kato Megumi, Hirabayashi Masumi, Sasa Masashi, Mori Yasuo, Serikawa Tadao
Abstract excerpt
Although febrile seizures (FSs) are the most common convulsive syndrome in infants and childhood, the etiology of FSs has remained unclarified. Several missense mutations of the Na(v)1.1 channel (SCN1A), which alter channel properties, have been reported in a familial syndrome of GEFS+ (generalized epilepsy with febrile seizures plus). Here, we generated Scn1a-targeted rats carrying a missense mutation (N1417H)...
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