Fenotipo epilettico associato a microdelezione 16p11.2: Descrizione di un caso

Translated title of the contribution: Epileptic phenotype associated with a 16p11.2 microdeletion: Description of a case

A. Aldrovandi, A. Posar, M. Santucci

Research output: Contribution to journalArticlepeer-review

Abstract

We present a 21-year-old male patient with dysmorphisms, mental retardation and epilepsy, with seizures partially controlled by therapy. Array-CGH (comparative genomic hybridization) showed a 525 Kb deletion in 16p11.2. We describe this case with the aim to contribute to define the epileptic phenotype associated with this copy number variant.

Translated title of the contributionEpileptic phenotype associated with a 16p11.2 microdeletion: Description of a case
Original languageItalian
Pages (from-to)178-180
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number145
Publication statusPublished - Apr 2013

ASJC Scopus subject areas

  • Clinical Neurology

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