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Article

Clinical and genetic features of GATOR1 complex-associated epilepsy.

Journal of medical genetics - 1 Aug 2023

Yin Kaili, Lei Xingxing, Yan Zhaofen, Yang Yujiao, Deng Qinqin, Lu Qiang, Zhang Xue, Wang Mengyang, Liu Qing

Abstract excerpt

OBJECTIVES: To analyse the prevalence of pathogenic variants in DEPDC5, NPRL2 and NPRL3 that encode the GATOR1 (GTPase-activating protein towards the Rags 1) complex, a modulator in the mammalian target of rapamycin (mTOR) pathway, and to define the characteristics of GATOR1-associated epilepsy. METHODS: Clinical details and whole-exome sequencing data of 170 novel probands with lesional or non-lesional epilepsy...

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GTPase-Activating Proteins
Epilepsies, Partial
Epilepsy
Mutation
Seizures

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Signal Transduction

TOR Serine-Threonine Kinases

Tuberous Sclerosis Complex Research

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Identifiers

PMID: 36604176
DOI: 10.1136/jmg-2021-108364

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

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