Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations
β Scribed by Maria Margherita Mancardi; Pasquale Striano; Elena Gennaro; Francesca Madia; Roberta Paravidino; Sara Scapolan; Bernardo Dalla Bernardina; Enrico Bertini; Amedeo Bianchi; Giuseppe Capovilla; Francesca Darra; Maurizio Elia; Elena Freri; Giuseppe Gobbi; Tiziana Granata; Renzo Guerrini; Chiara Pantaleoni; Antonia Parmeggiani; Antonino Romeo; Margherita Santucci; Marilena Vecchi; Pierangelo Veggiotti; Federico Vigevano; Angela Pistorio; Roberto Gaggero; Federico Zara
- Book ID
- 109109019
- Publisher
- Wiley (Blackwell Publishing)
- Year
- 2006
- Tongue
- English
- Weight
- 283 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0013-9580
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
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,