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Article

A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.

Journal of human genetics - 1 Feb 2022

Zhang Jia, Shen Yajun, Yang Zuozhen, Yang Fan, Li Yang, Yu Bo, Chen Wanlin, Gan Jing

Abstract excerpt

NPRL2 (nitrogen permease regulator like 2) is a component of the GATOR1(GAP activity towards rags complex 1) proteins, which is an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. GATOR1 complex variations were reported to correlate with familial focal epilepsy with variable foci (FFEVF). However, FFEVF caused by NPRL2 variants has not been widely explored. Here, we describe a variant, 339+2T>C,...

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Identifiers

PMID: 34376795
DOI: 10.1038/s10038-021-00969-z
PMCID: PMC8786660

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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