Journal article
A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A
JC Mulley, P Nelson, S Guerrero, L Dibbens, X Iona, JM McMahon, L Harkin, J Schouten, S Yu, SF Berkovic, IE Scheffer
Neurology | Ovid Technologies (Wolters Kluwer Health) | Published : 2006
Abstract
We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.