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Article

Novel GATOR1 variants in focal epilepsy.

Epilepsy & behavior : E&B - 1 Apr 2023

Kovačević Maša, Janković Milena, Branković Marija, Milićević Ognjen, Novaković Ivana, Sokić Dragoslav, Ristić Aleksandar, Shamsani Jannah, Vojvodić Nikola

Abstract excerpt

INTRODUCTION: Variants in GATOR1 genes are well established in focal epilepsy syndromes. A strong association of GATOR1 variants with drug-resistant epilepsy as well as an increased risk of sudden unexplained death in epilepsy warrants developing strategies to facilitate the identification of patients who could potentially benefit from genetic testing and precision medicine. We aimed to determine the yield of...

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Epilepsies, Partial
Epilepsy, Frontal Lobe
Epilepsy, Temporal Lobe
Epileptic Syndromes
GTPase-Activating Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36848747
DOI: 10.1016/j.yebeh.2023.109139

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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