Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
Article first published online: 2 NOV 2011
Wiley Periodicals, Inc. © 2011 International League Against Epilepsy
Volume 52, Issue 12, pages e194–e198, December 2011
How to Cite
Muhle, H., Mefford, H. C., Obermeier, T., von Spiczak, S., Eichler, E. E., Stephani, U., Sander, T. and Helbig, I. (2011), Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia, 52: e194–e198. doi: 10.1111/j.1528-1167.2011.03301.x
- Issue published online: 2 DEC 2011
- Article first published online: 2 NOV 2011
- Accepted September 6, 2011; Early View publication November 2, 2011.
- Intellectual disability;
- Idiopathic generalized epilepsy
15q13.3 microdeletions are the most common genetic findings identified in idiopathic generalized epilepsies to date, and they are present in up to 1% of patients. In addition, 15q13.3 microdeletions have been described in patients with epilepsy as part of a complex neurodevelopmental phenotype. We analyzed a cohort of 570 patients with various pediatric epilepsies for 15q13.3 microdeletions. Screening was performed using quantitative polymerase chain reaction; deletions were confirmed by array comparative genomic hybridization (CGH). We carried out detailed phenotyping of deletion carriers. In total, we identified four pediatric patients with 15q13.3 microdeletions, including one previously described patient. Two of four deletions were de novo, one deletion was inherited from an unaffected parent, and for one patient the inheritance is unknown. All four patients had absence epilepsy with various degrees of intellectual disability. We suggest that absence epilepsy accompanied by intellectual disability may represent a common phenotype of the 15q13.3 microdeletion in pediatric patients with epilepsy.