Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.

@article{Sugawara2002FrequentMO,
  title={Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.},
  author={Takashi Sugawara and Emi Mazaki-Miyazaki and Katsuyuki Fukushima and Jiro Shimomura and Tateki Fujiwara and Shin-ichiro Hamano and Yushi Inoue and Kazuhiro Yamakawa},
  journal={Neurology},
  year={2002},
  volume={58 7},
  pages={1122-4}
}
Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to truncation of the protein. 

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