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Article

Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.

Epilepsia open - 1 Feb 2024

Yang Dongling, Wang Jinqiu, Qin Zailong, Feng Juntan, Mao Chengyun, Chen Yuyi, Huang Xuelin, Ruan Yiyan

Abstract excerpt

Nitrogen permease regulator-like 3 (NPRL3) has been reported to play a role in seizure onset. The principal manifestation of NPRL3-related epilepsy is a range of epilepsy-associated syndromes, such as familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), and temporal lobe epilepsy (TLE). The association between phenotype and genotype of NPRL3 mutations remains inadequately...

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Source

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Identifiers

PMID: 37902097
DOI: 10.1002/epi4.12856
PMCID: PMC10839296

Genes

NPRL3
SHE

Variants

Provenance

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

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