Article (Scientific journals)
Investigation of GRIN2A in common epilepsy phenotypes.
Lal, Dennis; Steinbrucker, Sandra; Schubert, Julian et al.
2015In Epilepsy Research, 115, p. 95-9
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Keywords :
Copy number variation; GRIN2A; Idiopathic generalized epilepsy; Mutation; Temporal lobe epilepsy
Abstract :
[en] 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 (>40kb) 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.
Disciplines :
Neurology
Genetics & genetic processes
Author, co-author :
Lal, Dennis
Steinbrucker, Sandra
Schubert, Julian
Sander, Thomas
Becker, Felicitas
Weber, Yvonne
Lerche, Holger
Thiele, Holger
Krause, Roland  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Lehesjoki, Anna-Elina
Nurnberg, Peter
Palotie, Aarno
Neubauer, Bernd A.
Muhle, Hiltrud
Stephani, Ulrich
Helbig, Ingo
Becker, Albert J.
Schoch, Susanne
Hansen, Jorg
Dorn, Thomas
Hohl, Christin
Luscher, Nicole
von Spiczak, Sarah
Lemke, Johannes R.
More authors (14 more) Less
External co-authors :
yes
Language :
English
Title :
Investigation of GRIN2A in common epilepsy phenotypes.
Publication date :
2015
Journal title :
Epilepsy Research
ISSN :
0920-1211
Publisher :
Elsevier, Netherlands
Volume :
115
Pages :
95-9
Peer reviewed :
Peer Reviewed verified by ORBi
FnR Project :
FNR3935694 - Complex Genetics Of Idiopathic Epilepsies, 2010 (01/05/2011-31/10/2014) - Rudi Balling
Commentary :
Copyright (c) 2015 Elsevier B.V. All rights reserved.
Available on ORBilu :
since 07 October 2015

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