Descrizione di un caso clinico di epilessia farmacoresistente fotosensibile con crisi miocloniche associato a delezione 15q26.1-26.2

Translated title of the contribution: Photosensitive drug-resistant epilepsy with myoclonic seizures associated with chromosome 15q 26.1-26.2 deletion: Case report

C. Veredice, F. Bianco, I. Contaldo, M. Zollino, M. C. Stefanini, D. Battaglia, G. Vasco, M. Del Re, F. Guzzetta

Research output: Contribution to journalArticlepeer-review

Abstract

Fifty percent of pediatric patients affected by epilepsy in association with multiple congenital abnormalities, has a chromosome defect. CGH array, a recent cariotype analysis technique, allows analyzing the entire genome at the same time with high specificity. In this way, the individuation of chromosomal abnormalities is possible even in clinical conditions not recognizable as already known syndromes. We describe a case of drug resistant epilepsy with myoclonic seizures and photosensitivity, associated with dysmorphic features and vermis hypoplasia, in which a deletion of the terminal portion of chromosome 15 has been detected.

Translated title of the contributionPhotosensitive drug-resistant epilepsy with myoclonic seizures associated with chromosome 15q 26.1-26.2 deletion: Case report
Original languageItalian
Pages (from-to)183-185
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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