Article
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
Archives of neurology - 1 Apr 2008
Zucca Claudio, Redaelli Francesca, Epifanio Roberta, Zanotta Nicoletta, Romeo Antonino, Lodi Monica, Veggiotti Pierangelo, Airoldi Giovanni, Panzeri Chris, Romaniello Romina, De Polo Gianni, Bonanni Paolo, Cardinali Simonetta, Baschirotto Cinzia, Martorell Loreto, Borgatti Renato, Bresolin Nereo, Bassi Maria Teresa
Abstract excerpt
BACKGROUND: Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy. Mutations in this gene were observed in more than 70% of patients with severe myoclonic epilepsy of infancy (SMEI) and were also found in different types of infantile epileptic encephalopathy. OBJECTIVE: To search for...
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