Delezioni criptiche di 2q24.3-q31.1 coinvolgenti SCN1A in pazienti con epilessia mioclonica severa dell'infanzia. Esiste la "SMEI plus"?

Translated title of the contribution: Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Does "SMEI plus" exist?

P. Striano, F. Madia, A. Coppola, M. M. Mancardi, E. Gennaro, M. Budetta, M. R. Cilio, C. Ciampa, L. Errichiello, R. Gaggero, F. Zara

Research output: Contribution to journal › Article

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 contributionCryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Does "SMEI plus" exist?
Original languageItalian
Pages (from-to)73-75
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number136-137
Publication statusPublished - May 2008

ASJC Scopus subject areas

  • Clinical Neurology

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