Associated Papers
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
GATOR1 Mutations Impair PI3 Kinase-Dependent Growth Factor Signaling Regulation of mTORC1.
Muller M et al.
International Journal of Molecular Sciences, 2024
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
Gap Activity TOward Rags 1 variants in Chinese people with sporadic drug-resistant focal epilepsy.
Xiong W et al.
Acta Neurologica Scandinavica, 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
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S et al.
Journal of Medical Genetics, 2016
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG et al.
Annals of Neurology, 2016
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