{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T03:59:05Z","timestamp":1789444745748,"version":"build-2803163510"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":4296,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Jack Russell Terrier Club of America"},{"DOI":"10.13039\/100007165","name":"University of Missouri","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007165","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Hypothesis\/Objectives<\/jats:title>\n                    <jats:p>The objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia, seizures, or both and distinguish the phenotype from other ataxias in the RGTs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>DNA samples from 16 RGTs with spinocerebellar ataxia beginning from 2 to 12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs were studied.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This case-control study compared the frequencies of a KCNJ10 allele in RGTs with spinocerebellar ataxia versus control RGTs. This allele was identified in a whole-genome sequence of a single RGT with spinocerebellar ataxia and myokymia by comparison to whole-genome sequences from 81 other canids that were normal or had other diseases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A missense mutation in the gene coding for the inwardly rectifying potassium channel Kir4.1 (KCNJ10:c.627C&amp;gt;G) was significantly (P &amp;lt; .001) associated with the disease. Dogs homozygous for the mutant allele all had spinocerebellar ataxia with varying combinations of myokymia and seizures.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions and Clinical Importance<\/jats:title>\n                    <jats:p>Identification of the KCNJ10 mutation in dogs with spinocerebellar ataxia with myokymia, seizures, or both clarifies the multiple forms of ataxia seen in these breeds and provides a DNA test to identify carriers.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.12355","type":"journal-article","created":{"date-parts":[[2014,4,7]],"date-time":"2014-04-07T18:30:15Z","timestamp":1396895415000},"page":"871-877","source":"Crossref","is-referenced-by-count":66,"title":["A Homozygous\n                    <i>KCNJ10<\/i>\n                    Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both"],"prefix":"10.1093","volume":"28","author":[{"given":"D.","family":"Gilliam","sequence":"first","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.P.","family":"O'Brien","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Medicine and Surgery, , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.R.","family":"Coates","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Medicine and Surgery, , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.S.","family":"Johnson","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.C.","family":"Johnson","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Mhlanga-Mutangadura","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Hansen","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.F.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Division of Animal Science, College of Agriculture, Food and Natural Resources, University of Missouri , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.D.","family":"Schnabel","sequence":"additional","affiliation":[{"name":"Division of Animal Science, College of Agriculture, Food and Natural Resources, University of Missouri , Columbia, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,5,1]]},"reference":[{"key":"2026020304384183900_jvim12355-bib-0001","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/BF00685524","article-title":"Ataxia in Jack Russell Terriers","volume":"26","author":"Hartley","year":"1973","journal-title":"Acta Neuropathol"},{"key":"2026020304384183900_jvim12355-bib-0002","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.tvjl.2010.07.011","article-title":"Myokymia and neuromyotonia in 37 Jack Russell Terriers","volume":"189","author":"Bhatti","year":"2011","journal-title":"Vet J"},{"key":"2026020304384183900_jvim12355-bib-0003","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/vr.e3642","article-title":"Hereditary ataxia in Jack Russell Terriers in the UK","volume":"170","author":"Simpson","year":"2012","journal-title":"Vet Rec"},{"key":"2026020304384183900_jvim12355-bib-0004","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1111\/j.1939-1676.2010.0525.x","article-title":"Clinical and electrophysiological characterization of myokymia and neuromyotonia in Jack Russell Terriers","volume":"24","author":"Vanhaesebrouck","year":"2010","journal-title":"J Vet Intern Med"},{"key":"2026020304384183900_jvim12355-bib-0005","first-page":"515","article-title":"Hereditary ataxia in the Jack Russell Terrier\u2014Clinical and genetic investigations","volume":"18","author":"Wessmann","year":"2004","journal-title":"J Vet Intern Med"},{"key":"2026020304384183900_jvim12355-bib-0006","first-page":"769","article-title":"\u2018Continuous muscle fibre activity\u2019 in six dogs with episodic myokymia, stiffness and collapse","volume":"155","author":"Van Ham","year":"2004","journal-title":"Veterinary Record"},{"key":"2026020304384183900_jvim12355-bib-0007","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng1094-136","article-title":"Episodic ataxia\/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1","volume":"8","author":"Browne","year":"1994","journal-title":"Nat Genet"},{"key":"2026020304384183900_jvim12355-bib-0008","doi-asserted-by":"crossref","first-page":"12272","DOI":"10.1073\/pnas.211431298","article-title":"Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel","volume":"98","author":"Dedek","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"2026020304384183900_jvim12355-bib-0009","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.nmd.2012.01.008","article-title":"Experimental validation of in silico predicted KCNA1, KCNA2, KCNA6 and KCNQ2 genes for association studies of peripheral nerve hyperexcitability syndrome in Jack Russell Terriers","volume":"22","author":"Van Poucke","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"2026020304384183900_jvim12355-bib-0010","doi-asserted-by":"crossref","first-page":"e64627","DOI":"10.1371\/journal.pone.0064627","article-title":"Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed","volume":"8","author":"Forman","year":"2013","journal-title":"PLoS One"},{"key":"2026020304384183900_jvim12355-bib-0011","doi-asserted-by":"crossref","first-page":"2669","DOI":"10.1093\/bioinformatics\/btt476","article-title":"The MaSuRCA genome assembler","volume":"29","author":"Zimin","year":"2013","journal-title":"Bioinformatics"},{"key":"2026020304384183900_jvim12355-bib-0012","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"2026020304384183900_jvim12355-bib-0013","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S1050-3862(98)00019-9","article-title":"Allelic discrimination using fluorogenic probes and the 5\u2032 nuclease assay","volume":"14","author":"Livak","year":"1999","journal-title":"Genet Anal"},{"key":"2026020304384183900_jvim12355-bib-0014","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.2460\/ajvr.1984.45.10.2019","article-title":"Auditory-evoked response in the clinically normal dog: Early latency components","volume":"45","author":"Sims","year":"1984","journal-title":"Am J Vet Res"},{"key":"2026020304384183900_jvim12355-bib-0015","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.2460\/ajvr.1979.40.10.1433","article-title":"Motor nerve conduction velocity and latency in the dog","volume":"40","author":"Walker","year":"1979","journal-title":"Am J Vet Res"},{"key":"2026020304384183900_jvim12355-bib-0016","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1124\/pr.55.4.9","article-title":"International Union of Pharmacology. XLI. Compendium of voltage-gated ion channels: Potassium channels","volume":"55","author":"Gutman","year":"2003","journal-title":"Pharmacol Rev"},{"key":"2026020304384183900_jvim12355-bib-0017","doi-asserted-by":"crossref","first-page":"11354","DOI":"10.1523\/JNEUROSCI.0723-07.2007","article-title":"Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation","volume":"27","author":"Djukic","year":"2007","journal-title":"J Neurosci"},{"key":"2026020304384183900_jvim12355-bib-0018","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1152\/physrev.00021.2009","article-title":"Inwardly rectifying potassium channels: Their structure, function, and physiological roles","volume":"90","author":"Hibino","year":"2010","journal-title":"Physiol Rev"},{"key":"2026020304384183900_jvim12355-bib-0019","doi-asserted-by":"crossref","first-page":"5429","DOI":"10.1523\/JNEUROSCI.21-15-05429.2001","article-title":"Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination","volume":"21","author":"Neusch","year":"2001","journal-title":"J Neurosci"},{"key":"2026020304384183900_jvim12355-bib-0020","doi-asserted-by":"crossref","first-page":"5842","DOI":"10.1073\/pnas.0901749106","article-title":"Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10","volume":"106","author":"Scholl","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"2026020304384183900_jvim12355-bib-0021","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa0810276","article-title":"Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations","volume":"360","author":"Bockenhauer","year":"2009","journal-title":"N Engl J Med"},{"key":"2026020304384183900_jvim12355-bib-0022","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.tvjl.2013.03.002","article-title":"Myokymia and neuromyotonia in veterinary medicine: A comparison with peripheral nerve hyperexcitability syndrome in humans","volume":"197","author":"Vanhaesebrouck","year":"2013","journal-title":"Vet J"},{"key":"2026020304384183900_jvim12355-bib-0023","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s004419900066","article-title":"Immunological identification of an inward rectifier K+ channel (Kir4.1) in the intermediate cell (melanocyte) of the cochlear stria vascularis of gerbils and rats","volume":"298","author":"Ando","year":"1999","journal-title":"Cell Tissue Res"},{"key":"2026020304384183900_jvim12355-bib-0024","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0378-5955(02)00799-2","article-title":"Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit","volume":"177","author":"Rozengurt","year":"2003","journal-title":"Hear Res"},{"key":"2026020304384183900_jvim12355-bib-0025","first-page":"2866","article-title":"Myokymia","volume":"51","author":"Kaji","year":"1993","journal-title":"Nihon Rinsho"},{"key":"2026020304384183900_jvim12355-bib-0026","doi-asserted-by":"crossref","first-page":"4161","DOI":"10.1523\/JNEUROSCI.5053-07.2008","article-title":"Silencing the Kir4.1 potassium channel subunit in satellite glial cells of the rat trigeminal ganglion results in pain-like behavior in the absence of nerve injury","volume":"28","author":"Vit","year":"2008","journal-title":"J Neurosci"},{"key":"2026020304384183900_jvim12355-bib-0027","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s00424-010-0915-0","article-title":"The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel","volume":"461","author":"Bandulik","year":"2011","journal-title":"Pflugers Arch"},{"key":"2026020304384183900_jvim12355-bib-0028","doi-asserted-by":"crossref","first-page":"5733","DOI":"10.1523\/JNEUROSCI.20-15-05733.2000","article-title":"Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: Phenotypic impact in retina","volume":"20","author":"Kofuji","year":"2000","journal-title":"J Neurosci"},{"key":"2026020304384183900_jvim12355-bib-0029","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1113\/jphysiol.2010.198531","article-title":"Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome","volume":"589","author":"Thompson","year":"2011","journal-title":"J Physiol"},{"key":"2026020304384183900_jvim12355-bib-0030","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1111\/dmcn.12171","article-title":"Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome","volume":"55","author":"Cross","year":"2013","journal-title":"Dev Med Child Neurol"}],"container-title":["Journal of Veterinary Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjvim.12355","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jvim.12355","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jvim.12355","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jvim\/article-pdf\/28\/3\/871\/66685755\/jvim12355.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jvim\/article-pdf\/28\/3\/871\/66685755\/jvim12355.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T09:39:25Z","timestamp":1770111565000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jvim\/article\/28\/3\/871\/8452095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,1]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,5,1]]}},"URL":"https:\/\/doi.org\/10.1111\/jvim.12355","relation":{},"ISSN":["1939-1676"],"issn-type":[{"value":"1939-1676","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2014,5]]},"published":{"date-parts":[[2014,5,1]]}}}