Il pattern clinico ed EEG nella sindrome da delezione 22q13.3

Translated title of the contribution: The clinical and EEG pattern in the 22q13.3 deletion syndrome

M. Figura, M. Bottitta, G. Calabrese, M. Fichera, M. Elia

Research output: Contribution to journalArticlepeer-review

Abstract

The 22q13.3 deletion syndrome (22q13.3DS), also known as Phelan-McDermid Syndrome, is a rare genetic disorder caused by a microdeletion on chromosome 22 that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. The neurologic picture includes seizures. Many seizures are febrile and do not require medication; however, grand mal seizures, focal seizures, and absence seizures have been described. No characteristic EEG findings are associated with 22q13.3DS. We studied in a retrospective way the neurodevelopmental profile and the clinical features of 7 patients with 22q13.3DS. The results have been compared with the data of the literature. Also in absence of epilepsy, EEG abnormalities, especially during sleep, were found in 57% of the subjects. Hence, we consider rather useful to perform sleep EEG recording in patients with 22q13.3DS.

Translated title of the contributionThe clinical and EEG pattern in the 22q13.3 deletion syndrome
Original languageItalian
Pages (from-to)65-71
Number of pages7
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number145
Publication statusPublished - Apr 2013

ASJC Scopus subject areas

  • Clinical Neurology

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