A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

@article{Sugawara2001AMM,
  title={A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.},
  author={Takashi Sugawara and Yuji Tsurubuchi and Kishan Lal Agarwala and Masatoshi Ito and Goryu Fukuma and Emi Mazaki-Miyazaki and Hiroshi Nagafuji and Masanori Noda and K Imoto and Kaoru Wada and Akihisa Mitsudome and Sunao Kaneko and Mauricio Montal and Keiichi Nagata and Shinichi Hirose and Kazuhiro Yamakawa},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2001},
  volume={98 11},
  pages={6384-9}
}
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 beta1 and alpha(I)-subunit genes of voltage-gated Na(+) channels have been associated with GEFS+1 and 2, respectively. Here, we report a mutation resulting in an amino acid exchange (R188W) [corrected] in the gene encoding the alpha-subunit of neuronal voltage-gated Na… CONTINUE READING
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