Evidence map›Paper›PMID 36899667›Full record

ArticleAnimals : an open access journal from MDPI2023

Identification of a Novel Idiopathic Epilepsy Risk Locus and a Variant in the

Evy Beckers, Sofie F M Bhatti, Mario Van Poucke, Ingeborgh Polis, Frédéric Farnir, Filip Van Nieuwerburgh, Paul Mandigers, Luc Van Ham, Luc Peelman, Bart J G Broeckx

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Article in Animals : an open access journal from MDPI, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Evy BeckersDepartment of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University, 9820 Ghent, Belgium.ORCID 0000-0002-0583-8705
Sofie F M BhattiSmall Animal Department, Faculty of Veterinary Medicine, Ghent University, 9820 Ghent, Belgium.ORCID 0000-0002-3590-8348
Mario Van PouckeDepartment of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University, 9820 Ghent, Belgium.ORCID 0000-0002-4316-8984
Ingeborgh PolisSmall Animal Department, Faculty of Veterinary Medicine, Ghent University, 9820 Ghent, Belgium.
Frédéric FarnirBiostatistics and Bioinformatics Applied to Veterinary Science, FARAH Research Centre, Faculty of Veterinary Medicine, University of Liège, 4000 Liège, Belgium.ORCID 0000-0003-3430-9930
Filip Van NieuwerburghDepartment of Pharmaceutics, Faculty of Pharmaceutical Sciences, Ghent University, 9000 Ghent, Belgium.ORCID 0000-0001-8815-5485
Paul MandigersDepartment of Clinical Sciences, Faculty of Veterinary Medicine, Utrecht University, 3584 CL Utrecht, The Netherlands.ORCID 0000-0003-2547-6673
Luc Van HamSmall Animal Department, Faculty of Veterinary Medicine, Ghent University, 9820 Ghent, Belgium.
Luc PeelmanDepartment of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University, 9820 Ghent, Belgium.
Bart J G BroeckxDepartment of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University, 9820 Ghent, Belgium.ORCID 0000-0001-6742-3911

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

(1) Idiopathic epilepsy (IE) is thought to have a genetic cause in several dog breeds. However, only two causal variants have been identified to date, and few risk loci are known. No genetic studies have been conducted on IE in the Dutch partridge dog (DPD), and little has been reported on the epileptic phenotype in this breed. (2) Owner-filled questionnaires and diagnostic investigations were used to characterize IE in the DPD. A genome-wide association study (GWAS) involving 16 cases and 43 controls was performed, followed by sequencing of the coding sequence and splice site regions of a candidate gene within the associated region. Subsequent whole-exome sequencing (WES) of one family (including one IE-affected dog, both parents, and an IE-free sibling) was performed. (3) IE in the DPD has a broad range in terms of age at onset, frequency, and duration of epileptic seizures. Most dogs showed focal epileptic seizures evolving into generalized seizures. A new risk locus on chromosome 12 (BICF2G630119560; p

Indexed as

caninegenome-wide association studyGRIK2whole-exome sequencing

Identifiers

PMID36899667
PMCPMC10000155

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.