Article
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Human mutation - 1 Jun 2003
Claes Lieve, Ceulemans Berten, Audenaert Dominique, Smets Katrien, Löfgren Ann, Del-Favero Jurgen, Ala-Mello Sirpa, Basel-Vanagaite Lina, Plecko Barbara, Raskin Salmo, Thiry Paul, Wolf Nicole I, Van Broeckhoven Christine, De Jonghe Peter
Abstract excerpt
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 seizures including myoclonic seizures. Arrest of psychomotor development occurs in the second year of life and most...
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