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 features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2013

Zhai Qiong-xiang, Wang Chun, Chen Qian, Guo Yu-xiong, Chen Zhi-hong, Zhang Yu-xin, Gui Juan, Tang Zhi-hong, Zhuo Mu-qing

Abstract excerpt

OBJECTIVE: To investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). METHODS: Two hundred and fifty-seven patients (including 215 sporadic and 42 familial cases) were analyzed. Mutational screening was performed by sequencing all...

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 DNA Mutational Analysis

Share to Epilepsy, Frontal Lobe

Share to Genes, Dominant

Share to Infant

Share to Pedigree

Share to Receptors, Nicotinic

Source

Identifiers

PMID: 24327142
DOI: 10.3760/cma.j.issn.1003-9406.2013.06.006

Genes

CHRNA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24327142-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy].PMID 24327142Read ↗

[Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy].Semantic proximity Read ↗

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.Semantic proximity Read ↗

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.Semantic proximity Read ↗

SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.Semantic proximity Read ↗

Study of candidate gene cHRNA4 for familial epilepsy syndrome.Semantic proximity Read ↗

A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsySemantic proximity Read ↗

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

[Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss].Semantic proximity Read ↗

[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy].Semantic proximity Read ↗

Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.Semantic proximity Read ↗

Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

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