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Mutations of the SCN1A gene in acute encephalopathy

โœ Scribed by Makiko Saitoh; Mayu Shinohara; Hideki Hoshino; Masaya Kubota; Kaoru Amemiya; Jun-lchi Takanashi; Su-Kyeong Hwang; Shinichi Hirose; Masashi Mizuguchi


Book ID
114748248
Publisher
Wiley (Blackwell Publishing)
Year
2012
Tongue
English
Weight
219 KB
Volume
53
Category
Article
ISSN
0013-9580

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Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome is a rare epilepsy syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal voltage-gated sodium-channel alpha-subunit gene (SCN1A) have been identified. The majority of patients have truncating mutation