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October 10, 2024

[Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene].

Yongli Li Yifan Yang Jigang Qiu Liangliang Lu

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Abstract

To explore the clinical manifestations and genetic etiology of a Chinese pedigree affected with Familial focal epilepsy with variable foci (FFEVF).

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Cite This Study

Li et al. (2024) studied this question.

synapsesocial.com/papers/68e55b65e2b3180350ef91e0 https://doi.org/10.3760/cma.j.cn511374-20231108-00235

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1[Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene].2024
2Clinical and Genetic Characterization of Inherited <i>NPRL3</i> Splice Variants in Two Patients With EpilepsyNarrative Review · 2026
3[Clinical and genetic analysis of a child with Focal segmental glomerulosclerosis due to a novel variant of PLCE1 gene].2024
4Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genesRetrospective Study · 2025 · 1 citations
5Nocturnal frontal lobe epilepsy caused by a mutation in the <scp>GATOR</scp>1 complex gene <i><scp>NPRL</scp>3</i>Original Research · 2016 · 60 citations

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