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

The clinical phenotype of FFEVF patients caused by variants of NPRL3 gene is extensive, and the patients may present with neurological abnormality of autism spectrum disorder in addition to seizures.

Authors

Jigang Qiu
Liangliang Lu
Yongli Li (ORCID: https://orcid.org/0000-0002-3175-0272)
Yifan Yang (ORCID: https://orcid.org/0000-0001-9127-168X)

Institutions

Linyi People's Hospital (CN)

Publication Details

Journal: PubMed
Published: 2024-10-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20231108-00235
Primary Topic: Genetics and Neurodevelopmental Disorders
Type: article

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article

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

Jigang Qiu, Liangliang Lu, Yongli Li, Yifan Yang

Oct 10, 2024

PubMed

Genetics and Neurodevelopmental Disorders

article

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

Jigang Qiu, Liangliang Lu, Yongli Li, Yifan Yang

October 10, 2024article en

Abstract

The clinical phenotype of FFEVF patients caused by variants of NPRL3 gene is extensive, and the patients may present with neurological abnormality of autism spectrum disorder in addition to seizures.

PubMedVol. 41(10)

Linyi People's Hospital (CN)

Genetics and Neurodevelopmental Disorders

DOI Source OpenAlex

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[Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene]. — Jigang Qiu, Liangliang Lu, et al. · PubMed (2024) | TGRS Research Map | TGRS