2003 (v1)
Publication
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...
Uploaded on: April 14, 2023