Associated Papers
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
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
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
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
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