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

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

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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?
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

Cite this

@article{a73da46b549d4fca862cdf2a3099c50a,

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

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.",

keywords = "Epilepsy, FISH, Microdeletion, SCN1A, SMEI",

author = "P. Striano and F. Madia and A. Coppola and Mancardi, {M. M.} and E. Gennaro and M. Budetta and Cilio, {M. R.} and C. Ciampa and L. Errichiello and R. Gaggero and F. Zara",

year = "2008",

month = may,

language = "Italian",

pages = "73--75",

journal = "Bollettino - Lega Italiana contro l'Epilessia",

issn = "0394-560X",