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
Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.
Zhang H et al.
Frontiers in Neurology, 2023
NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
Iffland PH et al.
Brain : a Journal of Neurology, 2022
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
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.
Iffland PH et al.
Epilepsia, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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