Universität zu Köln

Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A. and Zimprich, Fritz ORCID: 0000-0002-6998-5480 (2014). Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia, 55 (8). S. E89 - 5. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

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Abstract

Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy-aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with a putative (ELP4) or a proven (SRPX2) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the ELP4 gene to centrotemporal spikes and SRPX2 to ARE. To reexamine these findings, we investigated a cohort of 280 patients of European ancestry with RE/ARE for the etiological contribution of these genes and their close interaction partners. We performed next-generation sequencing and single-nucleotide polymorphism (SNP)-array based genotyping to screen for sequence and structural variants. In comparison to European controls we could not detect an enrichment of rare deleterious variants of ELP4, SRPX2, or their interaction partners in affected individuals. The previously described functional p.N327S variant in the X chromosomal SRPX2 gene was detected in two affected individuals (0.81%) and also in controls (0.26%), with some preponderance of male patients. We did not detect an association of SNPs in the ELP4 gene with centrotemporal spikes as previously reported. In conclusion our data do not support a major role of ELP4 and SRPX2 in the etiology of RE/ARE.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Reinthaler, Eva M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Jurkowski, Wiktor UNSPECIFIED UNSPECIFIED UNSPECIFIED Feucht, Martha UNSPECIFIED UNSPECIFIED UNSPECIFIED Steinboeck, Hannelore UNSPECIFIED UNSPECIFIED UNSPECIFIED Gruber-Sedlmayr, Ursula UNSPECIFIED UNSPECIFIED UNSPECIFIED Ronen, Gabriel M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Geldner, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Haberlandt, Edda UNSPECIFIED UNSPECIFIED UNSPECIFIED Neophytou, Birgit UNSPECIFIED UNSPECIFIED UNSPECIFIED Hahn, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Toliat, Mohammad R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lerche, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Sander, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Neubauer, Bernd A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zimprich, Fritz UNSPECIFIED orcid.org/0000-0002-6998-5480 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-432366
DOI:	10.1111/epi.12712
Journal or Publication Title:	Epilepsia
Volume:	55
Number:	8
Page Range:	S. E89 - 5
Date:	2014
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1528-1167
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CHILDHOOD FOCAL EPILEPSIES; SPECTRUM DISORDERS; GRIN2A MUTATIONS; SPEECH; APHASIA; COMPLEX; SPIKES Multiple languages Clinical Neurology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/43236