Two mild cases of Dravet syndrome with truncating mutation of SCN1A.

@article{Takaori2017TwoMC,
  title={Two mild cases of Dravet syndrome with truncating mutation of SCN1A.},
  author={Toru Takaori and Akira Kumakura and A Ishii and Shinichi Hirose and Daisuke Hata},
  journal={Brain & development},
  year={2017},
  volume={39 1},
  pages={72-74}
}
BACKGROUND SCN1A is the gene that codes for the neuronal voltage-gated sodium-channel alpha-subunit 1. It is generally considered that an SCN1A truncating mutation causes the severe phenotype of Dravet syndrome. PATIENTS We describe 11- and 4-year-old male patients presenting with mild Dravet syndrome with a truncating mutation of SCN1A. The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate… CONTINUE READING
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