Epilessia in pazienti con delezione 22q

Translated title of the contribution: Epilepsy in patients with chromosome 22q deletion

M. Santucci, A. Baroncini, E. Cesaroni, B. Pirri, A. Cassetti, A. Colonna

Research output: Contribution to journalArticle

Abstract

We report three patients with 22q deletion, two with a microdeletion 22q11 and one with deletion 22q13. The dysmorphic features are peculiar to the chromosomopathies. The medical history is characterized by major developmental delay, very severe mental retardation, absence of expressive speech, temper tantrums and stereotyped movements. The epilepsy began in childhood (2 and 4 years). The seizures are resistant to antiepileptic drugs in 2 cases. It is important to be aware of these rare genetic syndromes, certainly underdiagnosed which can present epilepsy in the clinical history.

Translated title of the contributionEpilepsy in patients with chromosome 22q deletion
Original languageItalian
Pages (from-to)263-265
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number113-114
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Epilepsy in patients with chromosome 22q deletion'. Together they form a unique fingerprint.

  • Cite this

    Santucci, M., Baroncini, A., Cesaroni, E., Pirri, B., Cassetti, A., & Colonna, A. (2001). Epilessia in pazienti con delezione 22q. Bollettino - Lega Italiana contro l'Epilessia, (113-114), 263-265.