DAGNA BRICARELLI F.

Severe myoclonic epilepsy of infancy (SMEI) has been long suspected to have a genetic origin. Recently mutations in the gene encoding a voltage-gated α-1 sodium channel subunit - SCN1A - have been identified as a common cause of SMEI. Moreover, a mutation in the gene encoding the γ2 subunit of the GABAA receptor - GABRG2 - has been described in...

Objectives: SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. Methods: All patients fulfilled the criteria for SMEI. The...