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Article

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

Epilepsy research - 1 Nov 2015

Damiano John A, Mullen Saul A, Hildebrand Michael S, Bellows Susannah T, Lawrence Kate M, Arsov Todor, Dibbens Leanne, Major Heather, Dahl Hans-Henrik M, Mefford Heather C, Darbro Benjamin W, Scheffer Ingrid E, Berkovic Samuel F

Abstract excerpt

The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially schizophrenia. Deficiency of the acetylcholine receptor gene CHRNA7 and the partial duplication, CHRFAM7A, may contribute to these phenotypes and we sought to comprehensively analyze these genes in genetic generalized epilepsy. We analyzed using DHPLC, Sanger sequencing and long range...

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Share to alpha7 Nicotinic Acetylcholine Receptor
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Epilepsy, Generalized

Share to Gene Frequency

Share to Genetic Loci

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Share to Polymorphism, Genetic

Source

Identifiers

PMID: 26421493
DOI: 10.1016/j.eplepsyres.2015.09.007

Genes

CHRNA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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