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Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report

✍ Scribed by Masaru Takayanagi; Kazuhiro Haginoya; Naoki Umehara; Taro Kitamura; Yurika Numata; Keisuke Wakusawa; Naomi Hino-Fukuyo; Emi Mazaki; Kazuhiro Yamakawa; Toshihiro Ohura; Masatoshi Ohtake

Book ID
109112729
Publisher
Wiley (Blackwell Publishing)
Year
2010
Tongue
English
Weight
178 KB
Volume
51
Category
Article
ISSN
0013-9580

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Microdeletions involving the SCN1A gene
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients
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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