Abstract
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? |
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Original language | Italian |
Pages (from-to) | 73-75 |
Number of pages | 3 |
Journal | Bollettino - Lega Italiana contro l'Epilessia |
Issue number | 136-137 |
Publication status | Published - May 2008 |
ASJC Scopus subject areas
- Clinical Neurology