Universität zu Köln

Akcakaya, Nihan Hande, Capan, Ozlem Yalcin, Schulz, Herbert, Sander, Thomas, Caglayan, Server Hande and Yapici, Zuhal (2017). De novo 8p23.1 deletion in a patient with absence epilepsy. Epileptic Disord., 19 (2). S. 217 - 222. MONTROUGE: JOHN LIBBEY EUROTEXT LTD. ISSN 1950-6945

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Abstract

The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development. Herein, we report an epilepsy patient who was affected by developmental delay, microcephalia, behavioural problems, CHD, and childhood-onset absence seizures. The patient had a 4-Mb de novo microdeletion at 8p23.1. Some of the genes in this region, particularly XKR6 and MIR597, may be involved in the pathogenesis of absence seizures, suggesting that epilepsy may possibly be part of the phenotypic spectrum of the syndrome rather than a comorbid disorder. Thus, CNV screening for GG Eplus patients may have important implications in clinical practice with regards to diagnostic classification, clinical management of the syndromic multisystem disorders, and, potentially, genetic counselling.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Akcakaya, Nihan Hande UNSPECIFIED UNSPECIFIED UNSPECIFIED Capan, Ozlem Yalcin UNSPECIFIED UNSPECIFIED UNSPECIFIED Schulz, Herbert UNSPECIFIED UNSPECIFIED UNSPECIFIED Sander, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Caglayan, Server Hande UNSPECIFIED UNSPECIFIED UNSPECIFIED Yapici, Zuhal UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-229660
DOI:	10.1684/epd.2017.0906
Journal or Publication Title:	Epileptic Disord.
Volume:	19
Number:	2
Page Range:	S. 217 - 222
Date:	2017
Publisher:	JOHN LIBBEY EUROTEXT LTD
Place of Publication:	MONTROUGE
ISSN:	1950-6945
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Clinical Neurology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22966