Associated Papers
Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.
Su S et al.
Seizure, 2025
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
Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.
Yang Y et al.
Frontiers in Neurology, 2024
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Dainelli A et al.
Epilepsia Open, 2023
Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
Wang H et al.
Epilepsia Open, 2023
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.
Zhang H et al.
Frontiers in Neurology, 2023
The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.
Wang Y et al.
Plos One, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Bacq A et al.
Annals 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
Laser interstitial thermal therapy for NPRL3-related epilepsy with multiple seizure foci: A case report.
Abumurad S et al.
Epilepsy & Behavior Reports, 2021
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
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L et al.
Genetics in Medicine : Official Journal of the American College 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
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S et al.
Epilepsia, 2016