We report 3 patients with sever myoclonic epilepsy of infancy (SMEI) and genomic deletions encompassing the SCN1A locus (deletion size: 624 kb-4.7 Mb). Deletions originated de novo from paternal chromosome in all subjects. One patient had central precocious puberty and palatoschisis. Genotype-phenotype correlations suggest that these clinical features are due to genes centromeric to SCN1A.
|Translated title of the contribution||Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Does "SMEI plus" exist?|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - May 2008|
ASJC Scopus subject areas
- Clinical Neurology