Identification of a novel idiopathic epilepsy risk locus and a variant in the CCDC85A gene in the Dutch partridge dog

Simple Summary A significant percentage of Dutch partridge dogs suffers from epileptic seizures. Previous studies indicated that this is likely the result of genetic idiopathic epilepsy, but to date, little to no knowledge exists on the genetic cause. This study aimed to identify (a) causal variant(s) and/or risk loci associated with the disease. A risk locus for idiopathic epilepsy was described for the first time on chromosome 12. Furthermore, a variant in the CCDC85A gene was found to increase the risk of disease in homozygous variant dogs. Further research should be conducted to determine... Mehr ...

Verfasser: Beckers, Evy
Bhatti, Sofie
Van Poucke, Mario
Polis, Ingeborgh
Farnir, Frédéric
Van Nieuwerburgh, Filip
Mandigers, Paul
Van Ham, Luc
Peelman, Luc
Broeckx, Bart
Dokumenttyp: journalarticle
Erscheinungsdatum: 2023
Schlagwörter: Veterinary Sciences / GRIK2 / whole-exome sequencing / genome-wide association study / canine
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29033062
Datenquelle: BASE; Originalkatalog
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Link(s) : https://biblio.ugent.be/publication/01GT17FEMYEC6ED83C80PSZC5J