Associated Papers
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.
Thormeyer V et al.
Neuropediatrics, 2026
Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.
Su S et al.
Seizure, 2025
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
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
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
36539902 (PubMed )
Supplement: 40246_2022_444_MOESM1_ESM.xlsx › Epilepsy_Pathogenic_variants
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
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
Krenn M et al.
Journal of Medical Genetics, 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
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S et al.
Journal of Medical Genetics, 2016
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S et al.
Epilepsia, 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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