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Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy

✍ Scribed by Jennifer A. Kearney; Anna K. Wiste; Ulrich Stephani; Michelle M. Trudeau; Anne Siegel; Rajesh RamachandranNair; Roy D. Elterman; Hiltrud Muhle; Juliane Reinsdorf; W. Donald Shields; Miriam H. Meisler; Andrew Escayg


Book ID
116824850
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
147 KB
Volume
34
Category
Article
ISSN
0887-8994

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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