Associated Papers
Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.
Su S et al.
Seizure, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Galea B et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41332841 (PubMed )
Supplement: media-1.pdf
Identifying the Pathogenicity of a Novel NPRL3 Missense Mutation Using Personalized Cortical Organoid Model of Focal Cortical Dysplasia.
Lu R et al.
Journal of Molecular Neuroscience : Mn, 2024
From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey.
Nabavi Nouri M et al.
Genes, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
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
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST6
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E et al.
Neuropathology and Applied Neurobiology, 2018
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S et al.
Journal of Medical Genetics, 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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