{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T17:40:28Z","timestamp":1780422028000,"version":"3.54.1"},"reference-count":16,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Report:<\/jats:title>\n                    <jats:p>A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual disability and epilepsy, imitating cerebral palsy, presented with additional findings of renal tubulopathy, sensorineural deafness and normal neuroimaging leading to the diagnosis of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. The patient was heterozygous for two KCNJ10 mutations: a missense mutation (p.R65C) that is already published and a not yet published duplication (p.F119GfsX25) that creates a premature truncation of the protein. Both mutations are likely damaging. Parental testing has not been performed, and therefore, we do not know for certain whether the mutations are on different alleles. This young man presents some clinical and laboratory features that differ from previously reported patients with epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The necessity of accurate diagnosis through genetic testing in patients with static motor disorders resembling cerebral palsy phenotypes, atypical clinical features and noncontributory neuroimaging is emphasized.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/2050313x17723549","type":"journal-article","created":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T06:24:27Z","timestamp":1501136667000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with\n                    <i>KCNJ10<\/i>\n                    mutations: A case report"],"prefix":"10.1177","volume":"5","author":[{"given":"Antigone","family":"Papavasiliou","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Pendeli Children\u2019s Hospital, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerina","family":"Foska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Pendeli Children\u2019s Hospital, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Ioannou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Pendeli Children\u2019s Hospital, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mato","family":"Nagel","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnostics, Weisswasser, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2017,7,27]]},"reference":[{"key":"bibr1-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1046\/j.1529-8817.2004.00105.x"},{"key":"bibr2-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12262"},{"key":"bibr3-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv117"},{"key":"bibr4-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2009121227"},{"key":"bibr5-2050313X17723549","unstructured":"National Center for Biotechnology Information, US National Library of Medicine. KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 [\n                      Homo sapiens\n                      (human)], http:\/\/www.ncbi.nlm.nih.gov\/gene\/376 (accessed September 2015)."},{"key":"bibr6-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0810276"},{"key":"bibr7-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0901749106"},{"key":"bibr8-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12171"},{"key":"bibr9-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1159\/000330250"},{"key":"bibr10-2050313X17723549","unstructured":"OMIM, http:\/\/www.omim.org\/entry\/602208?search=KCNJ10&highlight=kcnj10#0010"},{"key":"bibr11-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-012-0113-2"},{"key":"bibr12-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2219-4"},{"key":"bibr13-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1159\/000356353"},{"key":"bibr14-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2010.198531"},{"key":"bibr15-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.227"},{"key":"bibr16-2050313X17723549","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1003072107"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X17723549","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X17723549","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X17723549","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:34:04Z","timestamp":1777595644000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X17723549"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":16,"alternative-id":["10.1177\/2050313X17723549"],"URL":"https:\/\/doi.org\/10.1177\/2050313x17723549","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,1]]},"article-number":"2050313X17723549"}}