16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

doi:10.1093/hmg/ddu306

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Article

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Human molecular genetics - 15 Nov 2014

Reinthaler Eva M, Lal Dennis, Lebon Sebastien, Hildebrand Michael S, Dahl Hans-Henrik M, Regan Brigid M, Feucht Martha, Steinböck Hannelore, Neophytou Birgit, Ronen Gabriel M, Roche Laurian, Gruber-Sedlmayr Ursula, Geldner Julia, Haberlandt Edda, Hoffmann Per, Herms Stefan, Gieger Christian, Waldenberger Melanie, Franke Andre, Wittig Michael, Schoch Susanne, Becker Albert J, Hahn Andreas, Männik Katrin, Toliat Mohammad R, Winterer Georg, Lerche Holger, Nürnberg Peter, Mefford Heather, Scheffer Ingrid E, Berkovic Samuel F, Beckmann Jacques S, Sander Thomas, Jacquemont Sebastien, Reymond Alexandre, Zimprich Fritz, Neubauer Bernd A

Abstract excerpt

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE....

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PMID: 24939913
DOI: 10.1093/hmg/ddu306

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