{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T09:51:29Z","timestamp":1787392289895,"version":"build-2736575974"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:00:00Z","timestamp":1771027200000},"content-version":"vor","delay-in-days":836,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:00:00Z","timestamp":1698710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>KCNJ10 and CAPN1 variants cause \u201cspinocerebellar\u201d ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the association between KCNJ10 and CAPN1 and myokymia or neuromyotonia, with or without concurrent spinocerebellar ataxia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>Thirty-three client-owned dogs with spinocerebellar ataxia, myokymia neuromytonia, or a combination of these signs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genetic analysis of a cohort of dogs clinically diagnosed with spinocerebellar ataxia, myokymia or neuromyotonia. KCNJ10 c.627C&amp;gt;G and CAPN1 c.344G&amp;gt;A variants and the coding sequence of KCNA1, KCNA2, KCNA6, KCNJ10 and HINT1 were sequenced using DNA extracted from blood samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Twenty-four Jack Russell terriers, 1 Jack Russell terrier cross, 1 Dachshund and 1 mixed breed with spinocerebellar ataxia were biallelic (homozygous) for the KCNJ10 c.627C&amp;gt;G variant. Twenty-one of those dogs had myokymia, neuromyotonia, or both. One Parson Russell terrier with spinocerebellar ataxia alone was biallelic for the CAPN1 c.344G&amp;gt;A variant. Neither variant was found in 1 Jack Russell terrier with ataxia alone, nor in 3 Jack Russell terriers and 1 Yorkshire terrier with myokymia and neuromyotonia alone. No other causal variants were found in the coding sequence of the investigated candidate genes in these latter 5 dogs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The KCNJ10 c.627C&amp;gt;G variant, or rarely the CAPN1 c.344G&amp;gt;A variant, was confirmed to be the causal variant of spinocerebellar ataxia. We also report the presence of the KCNJ10 c.627C&amp;gt;G variant in the Dachshund breed. In dogs with myokymia and neuromyotonia alone the reported gene variants were not found. Other genetic or immune-mediated causes should be investigated to explain the clinical signs of these cases.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.16892","type":"journal-article","created":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T05:21:16Z","timestamp":1698729676000},"page":"2310-2314","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1721-6169","authenticated-orcid":false,"given":"An","family":"Vanhaesebrouck","sequence":"first","affiliation":[{"name":"Queen's Veterinary School Hospital, Cambridge University , Cambridge,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-8984","authenticated-orcid":false,"given":"Mario","family":"Van Poucke","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Sciences, Ghent University Department of Veterinary and Biosciences, , Merelbeke,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberley","family":"Stee","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Sciences, Ghent University Small Animal Department, , Merelbeke,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Granger","sequence":"additional","affiliation":[{"name":"Bristol Vet Specialists, CVS Referrals , Bristol,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0669-0420","authenticated-orcid":false,"given":"Edward","family":"Ives","sequence":"additional","affiliation":[{"name":"Anderson Moores Veterinary Specialists , Winchester,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Van Soens","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Li\u00e8ge Companion Animal Clinic, Department of Clinical Sciences, , Liege,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ine","family":"Cornelis","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Sciences, Ghent University Small Animal Department, , Merelbeke,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenny","family":"Bossens","sequence":"additional","affiliation":[{"name":"Orion Veterinary Clinic , Herentals,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc","family":"Peelman","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Sciences, Ghent University Department of Veterinary and Biosciences, , Merelbeke,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc","family":"Van Ham","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Sciences, Ghent University Small Animal Department, , Merelbeke,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie F. M.","family":"Bhatti","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Sciences, Ghent University Small Animal Department, , Merelbeke,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,11,1]]},"reference":[{"key":"2026021401274012100_jvim16892-bib-0001","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1749-6632.1997.tb48622.x","article-title":"Autoimmune neuromyotonia (Isaacs' syndrome): an antibody-mediated potassium channelopathy","volume":"835","author":"Newsom-Davis","year":"1997","journal-title":"Ann N Y Acad Sci"},{"key":"2026021401274012100_jvim16892-bib-0002","doi-asserted-by":"crossref","first-page":"2734","DOI":"10.1093\/brain\/awq213","article-title":"Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia","volume":"133","author":"Irani","year":"2010","journal-title":"Brain"},{"key":"2026021401274012100_jvim16892-bib-0003","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1007\/s00415-006-0134-y","article-title":"Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene","volume":"253","author":"Poujois","year":"2006","journal-title":"J Neurol"},{"key":"2026021401274012100_jvim16892-bib-0004","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 U S A"},{"key":"2026021401274012100_jvim16892-bib-0005","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1038\/ng.2406","article-title":"Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia","volume":"44","author":"Zimon","year":"2012","journal-title":"Nat Genet"},{"key":"2026021401274012100_jvim16892-bib-0006","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":"2026021401274012100_jvim16892-bib-0007","article-title":"Continuous muscle fibre activity in Jack Russell terriers. Paper presented at: Proceedings of the 22nd Annual Veterinary Medical Forum (American College of Veterinary Internal Medicine), Minneapolis, USA; 2004","author":"Van Ham"},{"key":"2026021401274012100_jvim16892-bib-0008","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":"2026021401274012100_jvim16892-bib-0009","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":"2026021401274012100_jvim16892-bib-0010","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1111\/jvim.12355","article-title":"A homozygous KCNJ10 mutation in Jack Russell terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both","volume":"28","author":"Gilliam","year":"2014","journal-title":"J Vet Intern Med"},{"key":"2026021401274012100_jvim16892-bib-0011","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s13028-015-0115-1","article-title":"A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds","volume":"57","author":"Rohdin","year":"2015","journal-title":"Acta Vet Scand"},{"key":"2026021401274012100_jvim16892-bib-0012","article-title":"Neuromyotonia, myokymia and spinocerebellar ataxia in two Patterdale terrier littermates","volume":"10","author":"Fisher","year":"2022","journal-title":"Vet Rec"},{"key":"2026021401274012100_jvim16892-bib-0013","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1186\/s12917-016-0862-x","article-title":"Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier","volume":"12","author":"Gast","year":"2016","journal-title":"BMC Vet Res"},{"key":"2026021401274012100_jvim16892-bib-0014","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1534\/g3.116.038455","article-title":"A missense variant in KCNJ10 in Belgian shepherd dogs affected by spongy degeneration with cerebellar ataxia (SDCA1)","volume":"7","author":"Mauri","year":"2017","journal-title":"G3 (Bethesda)"},{"key":"2026021401274012100_jvim16892-bib-0015","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1038\/ejhg.2016.157","article-title":"The novel homozygous KCNJ10 c.986T&gt;C (p.(Leu329Pro)) variant is pathogenic for the SeSAME\/EAST homologue in Malinois dogs","volume":"25","author":"Van Poucke","year":"2017","journal-title":"Eur J Hum Genet"},{"key":"2026021401274012100_jvim16892-bib-0016","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1111\/jvim.16594","article-title":"Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant","volume":"37","author":"Stee","year":"2023","journal-title":"J Vet Intern Med"},{"key":"2026021401274012100_jvim16892-bib-0017","doi-asserted-by":"crossref","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":"2026021401274012100_jvim16892-bib-0018","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":"Vet Rec"},{"key":"2026021401274012100_jvim16892-bib-0019","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1136\/vr.132.23.587","article-title":"Suspected myokymia in a Yorkshire terrier","volume":"132","author":"Reading","year":"1993","journal-title":"Vet Rec"},{"key":"2026021401274012100_jvim16892-bib-0020","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":"2026021401274012100_jvim16892-bib-0021","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000218","article-title":"Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families","volume":"4","author":"Kocoglu","year":"2018","journal-title":"Neurol Genet"},{"key":"2026021401274012100_jvim16892-bib-0022","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":"2026021401274012100_jvim16892-bib-0023","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":"2026021401274012100_jvim16892-bib-0024","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/1097-4598(200102)24:2<151::AID-MUS10>3.0.CO;2-7","article-title":"When is myokymia neuromyotonia?","volume":"24","author":"Gutmann","year":"2001","journal-title":"Muscle Nerve"},{"key":"2026021401274012100_jvim16892-bib-0025","doi-asserted-by":"crossref","first-page":"558","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":"2026021401274012100_jvim16892-bib-0026","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/j.1748-5827.2011.01123.x","article-title":"Neuromyotonia in a dachshund with clinical and electrophysiological signs of spinocerebellar ataxia","volume":"52","author":"Vanhaesebrouck","year":"2012","journal-title":"J Small Anim Pract"},{"key":"2026021401274012100_jvim16892-bib-0027","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":"2026021401274012100_jvim16892-bib-0028","first-page":"217","article-title":"The American Book of the Dog","author":"Loeffler","year":"1891"}],"container-title":["Journal of Veterinary Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jvim\/article-pdf\/37\/6\/2310\/66895595\/jvim16892.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jvim\/article-pdf\/37\/6\/2310\/66895595\/jvim16892.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T06:27:50Z","timestamp":1771050470000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jvim\/article\/37\/6\/2310\/8483278"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,1]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,11,1]]}},"URL":"https:\/\/doi.org\/10.1111\/jvim.16892","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.11.17.516927","asserted-by":"object"}]},"ISSN":["1939-1676"],"issn-type":[{"value":"1939-1676","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,11]]},"published":{"date-parts":[[2023,11,1]]},"assertion":[{"value":"2023-06-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}