Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

doi:10.1089/dna.2012.1880

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

Community

Back to search

Article

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

DNA and cell biology - 1 Nov 2013

Rozycka Agata, Dorszewska Jolanta, Steinborn Barbara, Lianeri Margarita, Winczewska-Wiktor Anna, Sniezawska Aleksandra, Wisniewska Kamila, Jagodzinski Pawel P

Abstract excerpt

There is evidence of linkage between the 15q13-q14 locus, containing the gene encoding the α7 subunit (CHRNA7) of the neuronal nicotinic acetylcholine receptor (nAChR) and its partially duplicated isoform (CHRFAM7A), and epilepsy. Additionally, a 2-bp deletion polymorphism (c.497-498delTG; rs67158670) in CHRFAM7A, resulting in a frame shift and truncation of the protein product, is associated with some...

Read the complete abstract on PubMed

Topics

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

Share to alpha7 Nicotinic Acetylcholine Receptor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Confidence Intervals

Share to Epilepsy, Generalized

Share to Heteroduplex Analysis

Share to Introns

Share to Poland

Share to Sequence Deletion

Share to White People

Source

Open in PubMed Open full text

Identifiers

PMID: 24024466
DOI: 10.1089/dna.2012.1880
PMCID: PMC3806399

Genes

CHRNA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.PMID 24024466Read ↗

Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.Semantic proximity Read ↗

Unanswered questions in the regulation and function of the duplicated α7 nicotinic receptor gene CHRFAM7A.Semantic proximity Read ↗

Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies.Semantic proximity Read ↗

The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function.Semantic proximity Read ↗

Association of rs211037 GABRG2 gene polymorphism with susceptibility to idiopathic generalized epilepsy.Semantic proximity Read ↗

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.Semantic proximity Read ↗

Genetic variations in CHRNA7 or CHRFAM7 and susceptibility to dementia.Semantic proximity Read ↗

Polymorphisms in alpha 7 nicotinic acetylcholine receptor gene, CHRNA7, and its partially duplicated gene, CHRFAM7A, associate with increased inflammatory response in human peripheral mononuclear cells.Semantic proximity Read ↗

Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment.Semantic proximity Read ↗

Effect of Genetic Polymorphisms (SNPs) in CHRNA7 Gene on Response to Acetylcholinesterase Inhibitors (AChEI) in Patients with Alzheimer's Disease.Semantic proximity Read ↗

Evidence for association of the non-duplicated region of CHRNA7 gene with bipolar disorder but not with Schizophrenia.Semantic proximity Read ↗

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.Semantic proximity Read ↗

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