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 analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.

Epilepsia open - 1 Oct 2024

Yu Xixi, Che Fengyuan, Zhang Xin, Yang Li, Zhu Liping, Xu Na, Qiu Shiyan, Li Yufen

Abstract excerpt

OBJECTIVE: To summarize the clinical features and genetic mutation characteristics of Chinese children with KCNQ2-related epilepsy. METHODS: A cohort of children with genetically caused epilepsy was evaluated at Linyi People's Hospital from January 2017 to December 2023. After next-generation sequencing and pathogenicity analysis, we summarized the medical records and genetic testing data of the children who had...

Read the complete abstract on PubMed

Topics

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

Share to Anticonvulsants
Share to Child, Preschool
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Epilepsy

Share to Genetic Testing

Share to Infant

Share to KCNQ2 Potassium Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 39141400
DOI: 10.1002/epi4.13028
PMCID: PMC11450650

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.PMID 39141400Read ↗

Clinical and genetic analysis of 18 patients with KCNQ2mutations from South China.Semantic proximity Read ↗

[Clinical features of KCNB1 gene variation related developmental and epileptic encephalopathy].Semantic proximity Read ↗

Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.Semantic proximity Read ↗

Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathySemantic proximity Read ↗

A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.Semantic proximity Read ↗

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.Semantic proximity Read ↗

Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.Semantic proximity Read ↗

KCNQ2-Associated Epilepsy: A Review of Variable Phenotypes and Neurodevelopmental OutcomesSemantic proximity Read ↗

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.Semantic proximity Read ↗

[Analysis of KCNA2 gene variant in a Chinese pedigree affected with developmental and epileptic encephalopathy].Semantic proximity Read ↗

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.Semantic proximity Read ↗

Population-specific variant spectrum and epilepsy outcomes in IQSEC2-related neurodevelopmental disorder: a Chinese pediatric cohortSemantic proximity Read ↗

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