Involvement of <scp>GATOR</scp> complex genes in familial focal epilepsies and focal cortical dysplasia

2016173 citationsJournal Articlebronze Open Access

Authors

Sarah Weckhuysen · Institut du Cerveau

Elise Marsan · Centre National de la Recherche Scientifique

Virginie Lambrecq · Institut du Cerveau

Cécile Marchal · Centre Hospitalier Universitaire de Bordeaux

Mélanie Morin‐Brureau · Sorbonne Université

Isabelle An-Gourfinkel · Inserm

Michel Baulac

Abstract

GATOR1 complex gene mutations leading to mTORC1 pathway upregulation is an important cause of focal epilepsy with cortical malformations and represents a potential target for novel therapeutic approaches.

Topics & Keywords

Ion channel regulation and function Genomics and Rare Diseases Cardiac electrophysiology and arrhythmias

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Epilepsia

Volume 57, Issue 6, pp. 994-1003

DOI: 10.1111/epi.13391

Field-Weighted Citation Impact: 10.11