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

✍ 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

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De novo SCN1A mutations are a major caus
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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

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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,