Associated Papers
Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.
Su S et al.
Seizure, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Coleman M et al.
Brain Communications, 2025
39926610 (PubMed )
Supplement: fcaf034_supplementary_data.pdf
From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey.
Nabavi Nouri M et al.
Genes, 2024
Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.
Yang D et al.
Epilepsia Open, 2024
37902097 (PubMed )
Supplement: EPI4-9-33-s002.xlsx › Sheet1
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Dainelli A et al.
Epilepsia Open, 2023
Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.
Zhang H et al.
Frontiers in Neurology, 2023
Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review.
Hu J et al.
Frontiers in Genetics, 2022
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Lee WS et al.
Neurology, 2020
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
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E et al.
Neuropathology and Applied Neurobiology, 2018
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.
Korenke GC et al.
Epilepsia, 2016
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Sim JC et al.
Annals of Neurology, 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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