ArticleFrontiers in genetics2021
A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- The role of genetic testing in evaluating surgical outcomes for pediatric focal cortical dysplasia associated with NPRL3 variant.Epilepsy & behavior reports · 2025Article
- Identifying the Pathogenicity of a Novel NPRL3 Missense Mutation Using Personalized Cortical Organoid Model of Focal Cortical Dysplasia.Journal of molecular neuroscience : MN · 2024Article
- From Alpha-Thalassemia Trait toGenes · 2024Article
- Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.Epilepsia open · 2024Review
- Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.Epilepsia open · 2023Review
- Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.Science China. Life sciences · 2023Article
- The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.PloS one · 2023Article
- Clinical phenotypic and genotypic characterization ofFrontiers in neurology · 2023Article
- Identification of two rareFrontiers in genetics · 2022Article
- Obstructive sleep apnea induced bilateral tonic- clonic seizure of unknown origin: A case series of a novel association.Neurology perspectivesArticle
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial focal epilepsy with variable foci is an autosomal dominant disorder characterized by partial epilepsy with variable foci. In this study, we report a six-generation with segregation of the mutation present in four generations Chinese family presenting with focal epilepsy with variable foci. Whole exome sequencing confirms a novel pathogenic mutation in the NPRL3 gene (c316C>T;
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Registered trials
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