{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T07:56:39Z","timestamp":1778658999806,"version":"3.51.4"},"reference-count":34,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T00:00:00Z","timestamp":1705622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Open Access Publishing Fund of Leipzig University"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Lafora disease (LD) is a genetic disease affecting beagles, resulting in seizures in combination with other signs. The aim of this study was to describe the clinical signs of LD in beagles with different NHLRC1 genotypes. One hundred and sixty-six beagles were tested for an NHLRC1 gene defect: L\/L (n = 67), N\/L (n = 32), N\/N (n = 67). Owners were asked to participate in a survey about the clinical signs of LD in their dogs. These were recorded for the three possible genotypes in the two age groups, &lt;6 years and \u22656 years. In all genotypes, nearly all the signs of LD were described. In the age group \u2265 6 years, however, they were significantly more frequent in beagles with the L\/L genotype. If the following three clinical signs occur together in a beagle \u2265 6 years\u2014jerking of the head, photosensitivity and forgetting things he\/she used to be able to do\u201498.2% of these dogs are correctly assigned to the L\/L genotype. If one or two of these signs are missing, the correct classification decreases to 92.1% and 13.2%, respectively. Only the combination of certain signs truly indicates the L\/L genotype. Yet, for many dogs, only genetic testing will provide confirmation of the disease.<\/jats:p>","DOI":"10.3390\/genes15010122","type":"journal-article","created":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T03:33:41Z","timestamp":1705635221000},"page":"122","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical Signs in 166 Beagles with Different Genotypes of Lafora"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9892-0224","authenticated-orcid":false,"given":"Thomas","family":"Flegel","sequence":"first","affiliation":[{"name":"Department for Small Animals, Veterinary Faculty, Leipzig University, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Dirauf","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1547-0713","authenticated-orcid":false,"given":"Alexandra","family":"Kehl","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josephine","family":"Dietzel","sequence":"additional","affiliation":[{"name":"Department for Small Animals, Veterinary Faculty, Leipzig University, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette","family":"Holtdirk","sequence":"additional","affiliation":[{"name":"RQM+ (Germany) GmbH, 59229 Ahlen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ines","family":"Langbein-Detsch","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/2470","article-title":"Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy","volume":"20","author":"Minassian","year":"1998","journal-title":"Nat. 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