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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

✍ Scribed by Claes, Lieve (author);Del-Favero, Jurgen (author);Ceulemans, Berten (author);Lagae, Lieven (author);Van Broeckhoven, Christine (author);De Jonghe, Peter (author)


Book ID
117853627
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
799 KB
Volume
68
Category
Article
ISSN
0002-9297

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De novo SCN1A mutations are a major caus
✍ Lieve Claes; Berten Ceulemans; Dominique Audenaert; Katrien Smets; Ann LΓΆfgren; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 141 KB

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