The landscape of epilepsy-related GATOR1 variants

2018237 citationsJournal Articlehybrid Open Access

Authors

Sara Baldassari · Institut du Cerveau

Fabienne Picard · University Hospital of Geneva

Nienke E. Verbeek · University Medical Center Utrecht

Marjan van Kempen · University Medical Center Utrecht

Eva H. Brilstra · University Medical Center Utrecht

Gaëtan Lesca · Université Claude Bernard Lyon 1

Valerio Conti

Abstract

Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP.

Topics & Keywords

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Ion Transport and Channel Regulation

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Genetics in Medicine

Volume 21, Issue 2, pp. 398-408

DOI: 10.1038/s41436-018-0060-2

Field-Weighted Citation Impact: 17.40

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