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During the ictal phase eyelid spasms, tongue contractions, nodding and abundant salivation were observed, rapidly followed by a convulsive phase with bilateral tonic, clonic or tonic\u2013clonic activity and loss of consciousness. Finally, during the postictal phase the heifer was obtunded and disorientated, unable to perceive obstacles and hypermetric, and pressed its head against objects. In the inter\u2010seizure phase, the heifer was clinically normal. Neuropathology revealed axonal degeneration in the brainstem and diffuse astrocytic hypertrophic gliosis. Whole genome sequencing of the affected heifer identified a private heterozygous splice\u2010site variant in <jats:italic>DYRK1B<\/jats:italic> (NM_001081515.1: c.\u2010101\u20101G&gt;A), most likely resulting in haploinsufficiency owing to loss\u2010of\u2010function. This represents a report of a <jats:italic>DYRK1B<\/jats:italic>\u2010associated disease in cattle and adds <jats:italic>DYRK1B<\/jats:italic> to the candidate genes for epilepsy.<\/jats:p>","DOI":"10.1111\/age.13348","type":"journal-article","created":{"date-parts":[[2023,8,15]],"date-time":"2023-08-15T05:04:40Z","timestamp":1692075880000},"page":"623-627","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<i>DYRK1B<\/i> haploinsufficiency in a Holstein cattle with epilepsy"],"prefix":"10.1111","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6438-7975","authenticated-orcid":false,"given":"Joana G. P.","family":"Jacinto","sequence":"first","affiliation":[{"name":"Department of Veterinary Medical Sciences University of Bologna  Bologna Italy"},{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0605-3344","authenticated-orcid":false,"given":"Marilena","family":"Bolcato","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medical Sciences University of Bologna  Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5648-963X","authenticated-orcid":false,"given":"Irene M.","family":"H\u00e4fliger","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3569-8547","authenticated-orcid":false,"given":"Anna","family":"Oevermann","sequence":"additional","affiliation":[{"name":"Division of Neurological Sciences, DCR\u2010VPH, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6091-8978","authenticated-orcid":false,"given":"Arcangelo","family":"Gentile","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medical Sciences University of Bologna  Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9773-522X","authenticated-orcid":false,"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2015.03.004"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12917\u2010015\u20100461\u20102"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tvjl.2023.105956"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102012\u2010101251"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12917\u2010015\u20100462\u20101"},{"key":"e_1_2_5_7_1","unstructured":"Denholm L.J. 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