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 contribution||Epilepsy in patients with chromosome 22q deletion|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 2001|
ASJC Scopus subject areas
- Clinical Neurology