Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Issue 8 (3rd July 2014)

• Record Type: Journal Article
• Authors: Reinthaler, Eva M.; Lal, Dennis; Jurkowski, Wiktor; Feucht, Martha; Steinböck, Hannelore; Gruber‐Sedlmayr, Ursula; Ronen, Gabriel M.; Geldner, Julia; Haberlandt, Edda; Neophytou, Birgit; Hahn, Andreas; Altmüller, Janine; Thiele, Holger; Toliat, Mohammad R.; EuroEPINOMICS Consortium; Lerche, Holger; Nürnberg, Peter; Sander, Thomas; Neubauer, Bernd A.; Zimprich, Fritz
• Is Part Of: Epilepsia. Volume 55:Issue 8(2014:Aug.)
• Page Start: e89
• Page End: e93
• Publication Date: 2014-07-03
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1111/epi.12712
• Languages: English
• ISSNs: 0013-9580

Abstract

<abstract abstract-type="main" id="epi12712-abs-0001"> <title>Summary</title> <p>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 (<italic>ELP4</italic>) or a proven (<italic>SRPX2</italic>) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the <italic>ELP4</italic> gene to centrotemporal spikes and <italic>SRPX2</italic> 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 <italic>ELP4</italic>, <italic> SRPX2</italic>, or their interaction partners in affected individuals. The previously described functional p.N327S variant in the X chromosomal <italic>SRPX2</italic> 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 <italic>ELP4</italic> gene with centrotemporal spikes as previously reported. In conclusion our data do not support a major role of <italic>ELP4</italic> and <italic>SRPX2</italic> in the etiology of RE/ARE.</p> <p>A PowerPoint slide summarizing this article is available for download in the Supporting Information section <ext-link ext-link-type="uri" xlink:href="http://dx.doi.org/10.1111/epi.12712/supinfo" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">here</ext-link>.</p> </abstract>