A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.

@article{Mashimo2010AMM,
  title={A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.},
  author={Tomoji Mashimo and Iori Ohmori and Mamoru Ouchida and Yukihiro Ohno and Toshiko Tsurumi and Takafumi Miki and Minoru Wakamori and Shizuka Ishihara and Takashi Yoshida and Akiko Takizawa and Megumi Kato and Masumi Hirabayashi and Masashi Sasa and Yasuo Mori and Tadao Serikawa},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2010},
  volume={30 16},
  pages={5744-53}
}
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) in the third pore region of the sodium channel by gene-driven ENU (N-ethyl-N… CONTINUE READING

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A catalog of <ce:italic>SCN1A</ce:italic> variants

Brain and Development • 2009
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