Investigation of GRIN2A in common epilepsy phenotypes

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Lal , D , Steinbruecker , S , Schubert , J , Sander , T , Becker , F , Weber , Y , Lerche , H , Thiele , H , Krause , R , Lehesjoki , A-E , Nuernberg , P , Palotie , A , Neubauer , B A , Muhle , H , Stephani , U , Helbig , I , Becker , A J , Schoch , S , Hansen , J , Dorn , T , Hohl , C , Luescher , N , von Spiczak , S , Lemke , J R , EPICURE Consortium & EuroEPINOMICS-CoGIE Consortium 2015 , ' Investigation of GRIN2A in common epilepsy phenotypes ' , Epilepsy Research , vol. 115 , pp. 95-99 .

Title: Investigation of GRIN2A in common epilepsy phenotypes
Author: Lal, Dennis; Steinbruecker, Sandra; Schubert, Julian; Sander, Thomas; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Thiele, Holger; Krause, Roland; Lehesjoki, Anna-Elina; Nuernberg, Peter; Palotie, Aarno; Neubauer, Bernd A.; Muhle, Hiltrud; Stephani, Ulrich; Helbig, Ingo; Becker, Albert J.; Schoch, Susanne; Hansen, Joerg; Dorn, Thomas; Hohl, Christin; Luescher, Nicole; von Spiczak, Sarah; Lemke, Johannes R.; EPICURE Consortium; EuroEPINOMICS-CoGIE Consortium
Contributor organization: Neuroscience Center
Research Programs Unit
Department of Medical and Clinical Genetics
Anna-Elina Lehesjoki / Principal Investigator
Research Programme for Molecular Neurology
Institute for Molecular Medicine Finland
Aarno Palotie / Principal Investigator
Genomics of Neurological and Neuropsychiatric Disorders
Date: 2015-09
Language: eng
Number of pages: 5
Belongs to series: Epilepsy Research
ISSN: 0920-1211
Abstract: Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A mutations by investigating patients with the two most common epilepsy syndromes: (i) idiopathic generalized epilepsy (IGE) and (ii) temporal lobe epilepsy (TLE). Whole exome sequencing data of 238 patients with IGE as well as Sanger sequencing of 84 patients with TLE were evaluated for GRIN2A sequence alterations. Two additional independent cohorts comprising 1469 IGE and 330 TLE patients were screened for structural deletions (>40 kb) involving GRIN2A. Apart from a presumably benign, non-segregating variant in a patient with juvenile absence epilepsy, neither mutations nor deletions were detected in either cohort. These findings suggest that mutations in GRIN2A preferentially are involved in genetic variance of pediatric IFE and do not contribute significantly to either adult focal epilepsies as TLE or generalized epilepsies. (C) 2015 Elsevier B.V. All rights reserved.
Subject: GRIN2A
Idiopathic generalized epilepsy
Temporal lobe epilepsy
Copy number variation
3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Rights: other
Usage restriction: openAccess
Self-archived version: acceptedVersion

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