Associated Papers
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
The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.
Wang Y et al.
Plos One, 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
36685832 (PubMed )
Supplement: Table2.XLSX › Sheet1
A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci.
Li Y et al.
Frontiers in Genetics, 2021
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
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S et al.
Epilepsia, 2016
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