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 a Chinese pedigree affected with benign familial neonatal convulsion].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2022

Zeng Feng, Song Feifei, Ke Huan, Cheng Rui

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic variant in a Chinese pedigree affected with benign familial neonatal convulsion (BFNC). METHODS: Clinical data and peripheral blood samples of the pedigree were obtained with informed consent. Whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing. RESULTS: The pedigree comprised 9 individuals,...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy, Benign Neonatal

Share to Genetic Testing

Share to Infant

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 35076919
DOI: 10.3760/cma.j.cn511374-20200731-00570

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 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 a Chinese pedigree affected with benign familial neonatal convulsion].PMID 35076919Read ↗

[A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].Semantic proximity Read ↗

[A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].Semantic proximity Read ↗

[Benign familial neonatal convulsions: molecular pathology and diagnosis].Semantic proximity Read ↗

The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.Semantic proximity Read ↗

[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].Semantic proximity Read ↗

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.Semantic proximity Read ↗

Benign familial neonatal convulsions: always benign?Semantic proximity Read ↗

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.Semantic proximity Read ↗

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

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.Semantic proximity Read ↗

[Analysis of clinical phenotype and SCN1A gene variant in a pedigree affected with genetic epilepsy with febrile seizures].Semantic proximity Read ↗

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.Semantic proximity Read ↗

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