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Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations


Book ID
109110301
Publisher
Wiley (Blackwell Publishing)
Year
2007
Tongue
English
Weight
72 KB
Volume
48
Category
Article
ISSN
0013-9580

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πŸ“œ SIMILAR VOLUMES


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

Parental mosaicism can cause recurrent t
✍ Christel Depienne; Alexis Arzimanoglou; Oriane Trouillard; Estelle Fedirko; StΓ©p πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 181 KB

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,