Epilessia e anomalie di sviluppo cerebrale associate a delezione 2q32.1-q33.1

Translated title of the contribution: Epilepsy and cerebral developmental anomalies associated with ch 2 q32.1-q33.1 deletion

R. Gaggero, M. Mancardi, M. G. Baglietto, L. Siri, F. Faravelli, F. Forzano, F. Zara, P. Striano

Research output: Contribution to journalArticlepeer-review

Abstract

We report a 13-yr-old girl with ch 2 q32.1-q33.1 deletion detected by micro-array CGH. She has mental retardation, mild epilepsy with partial szrs, cleft palate, multiple dysmorphic aspects, prevailing on the face. EEG shows multifocal paroxysmals and CSWSS-like abnormalities during sleep; MRI: partial agenesia of corpus callosum and of other inter-hemispheric structures. Among the deleted genes, the STAB2 located 2q32.1 is relevant, because it controls both the formation of the face bones and the directions of cortical projections towards contra-lateral hemisphere. So, the STAB2 deletion appears to be correlated with the developmental abnormalities of this patient.

Translated title of the contributionEpilepsy and cerebral developmental anomalies associated with ch 2 q32.1-q33.1 deletion
Original languageItalian
Pages (from-to)138-139
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number142
Publication statusPublished - Apr 2011

ASJC Scopus subject areas

  • Clinical Neurology

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