Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy-Reference-Cited by-同舟云学术

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Published:2018-01-22 Issue:2 Volume:26 Page:258-264
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bobbili Dheeraj R., ,Lal Dennis,May Patrick^ORCID,Reinthaler Eva M.,Jabbari Kamel,Thiele Holger,Nothnagel Michael,Jurkowski Wiktor,Feucht Martha,Nürnberg Peter,Lerche Holger,Zimprich Fritz,Krause Roland,Neubauer Bernd A.,Reinthaler Eva M.,Zimprich Fritz,Feucht Martha,Steinböck Hannelore,Neophytou Birgit,Geldner Julia,Gruber-Sedlmayr Ursula,Haberlandt Edda,Ronen Gabriel M.,Altmüller Janine,Lal Dennis,Nürnberg Peter,Sander Thomas,Thiele Holger,Krause Roland,May Patrick,Balling Rudi,Lerche Holger,Neubauer Bernd A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0034-x.pdf

Reference21 articles.

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3. Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013;45:1067–72.

4. Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, et al. RBFOX1 and RBFOX3 mutations in Rolandic epilepsy. PLoS ONE. 2013;8:e73323.

5. Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014;75:788–92. May 1

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