Associated Papers
Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.
Su S et al.
Seizure, 2025
Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.
Zhu H et al.
Bmc Neurology, 2025
Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review.
Zhang H et al.
Seizure, 2024
Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
Wang H et al.
Epilepsia Open, 2023
37259768 (PubMed )
Supplement: EPI4-8-969-s002.pdf
Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.
Zhou X et al.
Clinical Dysmorphology, 2022
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
Zhang J et al.
Journal of Human Genetics, 2022
Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review.
Sun Y et al.
Frontiers in Neurology, 2021
Arg-78 of Nprl2 catalyzes GATOR1-stimulated GTP hydrolysis by the Rag GTPases.
Shen K et al.
The Journal of Biological Chemistry, 2019
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30093711 (PubMed )
Supplement: 41436_2018_60_MOESM6_ESM.xlsx › Foglio1
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
Perucca P et al.
Epilepsy Research, 2017
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