Germline and somatic mutations in theMTORgene in focal cortical dysplasia and epilepsy-Reference-Cited by-同舟云学术

Germline and somatic mutations in theMTORgene in focal cortical dysplasia and epilepsy

Published:2016-10-31 Issue:6 Volume:2 Page:e118
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Møller Rikke S.,Weckhuysen Sarah,Chipaux Mathilde,Marsan Elise,Taly Valerie,Bebin E. Martina,Hiatt Susan M.,Prokop Jeremy W.,Bowling Kevin M.,Mei Davide,Conti Valerio,de la Grange Pierre,Ferrand-Sorbets Sarah,Dorfmüller Georg,Lambrecq Virginie,Larsen Line H.G.,Leguern Eric,Guerrini Renzo,Rubboli Guido,Cooper Gregory M.,Baulac Stéphanie

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),Clinical Neurology

Reference44 articles.

1. mTOR signaling pathway genes in focal epilepsies;Baulac;Prog Brain Res,2016

2. A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1

3. Mutations of DEPDC5 cause autosomal dominant focal epilepsies

4. Mutations in DEPDC5 cause familial focal epilepsy with variable foci

5. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

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