Universität zu Köln

Muhle, Hiltrud, Mefford, Heather C., Obermeier, Tanja, von Spiczak, Sarah, Eichler, Evan E., Stephani, Ulrich, Sander, Thomas and Helbig, Ingo ORCID: 0000-0001-8486-0558 (2011). Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia, 52 (12). S. E194 - 5. HOBOKEN: WILEY. ISSN 1528-1167

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Muhle, Hiltrud UNSPECIFIED UNSPECIFIED UNSPECIFIED Mefford, Heather C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Obermeier, Tanja UNSPECIFIED UNSPECIFIED UNSPECIFIED von Spiczak, Sarah UNSPECIFIED UNSPECIFIED UNSPECIFIED Eichler, Evan E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Stephani, Ulrich UNSPECIFIED UNSPECIFIED UNSPECIFIED Sander, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Helbig, Ingo UNSPECIFIED orcid.org/0000-0001-8486-0558 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-483931
DOI:	10.1111/j.1528-1167.2011.03301.x
Journal or Publication Title:	Epilepsia
Volume:	52
Number:	12
Page Range:	S. E194 - 5
Date:	2011
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1528-1167
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language EPILEPSY Multiple languages Clinical Neurology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48393