Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy.

Molecular genetics & genomic medicine - 1 Jun 2026

Wang Shouxing, Wu Jihua, Song Conglei, He Yuanzhi, Zhao Zhongli, Yang Bin

Abstract excerpt

BACKGROUND: NPRL3-related epilepsy (NRE) is a GATORopathy characterized by focal seizures, with or without focal cortical dysplasia. Although NPRL3 variants have been associated with syndromes such as familial focal epilepsy with variable foci and sleep-related hypermotor epilepsy, the genotype-phenotype correlations in NRE remain poorly understood. This study aimed to investigate the clinical and genetic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Epilepsy
Share to GTPase-Activating Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42210661
DOI: 10.1002/mgg3.70240
PMCID: PMC13240258

Genes

NPRL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy.PMID 42210661Read ↗

Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.Semantic proximity Read ↗

Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.Semantic proximity Read ↗

Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review.Semantic proximity Read ↗

The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variantSemantic proximity Read ↗

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

Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.Semantic proximity Read ↗

Genetic forms of epilepsies and other paroxysmal disorders.Semantic proximity Read ↗

Genetics of epilepsy and relevance to current practice.Semantic proximity Read ↗

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL 3 pathogenic variants in familial focal epilepsy with variable fociSemantic proximity Read ↗

A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.Semantic proximity Read ↗

Genetic characteristics of non-familial epilepsySemantic proximity Read ↗

Genetic Etiology of Epilepsy: A Retrospective Study From a Single-Center Cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.