Article
Rare gene deletions in genetic generalized and Rolandic epilepsies.
PloS one - 1 Jan 2018
Jabbari Kamel, Bobbili Dheeraj R, Lal Dennis, Reinthaler Eva M, Schubert Julian, Wolking Stefan, Sinha Vishal, Motameny Susanne, Thiele Holger, Kawalia Amit, Altmüller Janine, Toliat Mohammad Reza, Kraaij Robert, van Rooij Jeroen, Uitterlinden André G, Ikram M Arfan, Zara Federico, Lehesjoki Anna-Elina, Krause Roland, Zimprich Fritz, Sander Thomas, Neubauer Bernd A, May Patrick, Lerche Holger, Nürnberg Peter
Abstract excerpt
Genetic Generalized Epilepsy (GGE) and benign epilepsy with centro-temporal spikes or Rolandic Epilepsy (RE) are common forms of genetic epilepsies. Rare copy number variants have been recognized as important risk factors in brain disorders. We performed a systematic survey of rare deletions affecting protein-coding genes derived from exome data of patients with common forms of genetic epilepsies. We analysed...
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