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Severe myoclonic epilepsy in infancy and carbamazepine

✍ Scribed by S. Wakai; N. Ito; H. Sueoka; Y. Kawamoto; H. Hayasaka; S. Chiba

Publisher
Springer
Year
1996
Tongue
English
Weight
117 KB
Volume
155
Category
Article
ISSN
0340-6997

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De novo SCN1A mutations are a major caus
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Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without a family history of a similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later in life, patients display different types of afebrile s

Parental mosaicism can cause recurrent t
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
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De novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far. A few mutations inherited from an asymptomatic or mildly affected parent have been reported,