Microchromosomal deletions involving <i>SCN1A</i> and adjacent genes in severe myoclonic epilepsy in infancy

Abstract

Our findings indicate that microchromosomal deletion, often involving not only SCN1A but also several adjacent genes, is associated with core SMEI. As microchromosomal deletion cannot be anticipated by the phenotypes or detected by conventional methods, genetic abnormalities in SMEI should be carefully sought by techniques that can detect microdeletions.