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Article

Neuroimaging spectrum of GATOR1-related epilepsy (GATORopathies).

Neuroradiology - 1 Jul 2026

Rb Revanth, Ajith Aditya, Nayak Abhishek, Radhakrishnan Ashalatha, Thomas Bejoy, Kesavadas Chandrasekharan

Abstract excerpt

BACKGROUND: The mTOR pathway is important for neurodevelopment. The GATOR1 complex, composed of DEPDC5, NPRL2, and NPRL3, functions as a negative regulator of mTORC1 activity and pathogenic variants in the genes which comprise this complex cause focal epilepsy and malformation of cortical development, all named as GATORopathies. While focal cortical dysplasia is commonly reported, the full spectrum of associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42149211
DOI: 10.1007/s00234-026-04036-2

Genes

DEPDC5
NPRL2
NPRL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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