Abstract
15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recently, absence seizures with intellectual disability (ID) have been reported in patients carrying this mutation. We describe two families in which several affected members carry a 15q13.3 microdeletion in a pattern suggestive of autosomal dominant inheritance. Their phenotype includes mainly absence epilepsy and mild ID, suggesting only similarities with genetic/idiopathic generalized epilepsies but not typical features. The importance of studying such families is crucial to broaden the phenotype and understand the long-term outcome of patients with this condition.
Original language | English |
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Journal | Epilepsia |
Volume | 54 |
Issue number | 5 |
DOIs | |
Publication status | Published - May 2013 |
Keywords
- 15q13.3 CNV
- Absence seizures
- Epilepsy
- Genetics
- Microdeletion
ASJC Scopus subject areas
- Clinical Neurology
- Neurology