{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T07:33:59Z","timestamp":1766820839076,"version":"3.45.0"},"reference-count":8,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,5,28]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    Wilson disease is an inherited disorder of copper metabolism caused by an\n                    <jats:italic>ATP7B<\/jats:italic>\n                    gene mutation, which encodes a protein responsible for excreting excess copper into bile and plasma. The excess copper deposits in the liver, brain and cornea. Copper deposition in the brain causes neuronal loss, gliosis and cavitation in the cortex\/basal ganglia\/brainstem. Cortical lesions increase patients\u2019 liability to seizures. Other causes of seizures in Wilson disease include acute copper shifts and pyridoxine deficiency produced by copper chelating drugs and hepatic encephalopathy. Copper-free diets and copper chelating drugs sometimes cause copper deficiency, resulting in anaemia, thrombocytopenia, neuropathy and myeloneuropathy. Hypocupraemia may rarely cause seizures. We describe a patient with Wilson disease who developed refractory focal seizures with impaired awareness that were resistant to multiple antiseizure medications, midazolam, intravenous methylprednisolone (given in view of recent new-onset refractory status epilepticus), parenteral pyridoxine and the treatment for hepatic encephalopathy. His seizures improved promptly with copper supplementation.\n                  <\/jats:p>","DOI":"10.1136\/pn-2025-004598","type":"journal-article","created":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T21:40:35Z","timestamp":1752270035000},"page":"558-561","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Hypocupraemia-related drug-refractory seizures in Wilson disease"],"prefix":"10.1136","volume":"25","author":[{"given":"Sanyam","family":"Mahajan","sequence":"first","affiliation":[{"name":"Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Himanshu","family":"Chauhan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivek","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Radiology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1132-5372","authenticated-orcid":false,"given":"Vimal Kumar","family":"Paliwal","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,7,11]]},"reference":[{"key":"2025111304551247000_25.6.558.1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.neuro.2018.12.005","article-title":"Predictors of seizure in Wilson disease: A clinico-radiological and biomarkers study","volume":"71","author":"Kalita","year":"2019","journal-title":"Neurotoxicology"},{"key":"2025111304551247000_25.6.558.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2010.07.018"},{"key":"2025111304551247000_25.6.558.3","doi-asserted-by":"crossref","DOI":"10.1016\/j.jns.2013.07.209","article-title":"Increased seizure frequency due to the copper deficiency in Wilson\u2019s disease","volume":"333","author":"Kaleagasi","year":"2013","journal-title":"J Neurol Sci"},{"key":"2025111304551247000_25.6.558.4","first-page":"359","article-title":"Copper: effects of deficiency and overload","volume":"13","author":"Scheiber","year":"2013","journal-title":"Met Ions Life Sci"},{"key":"2025111304551247000_25.6.558.5","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1177\/155005949903000309","article-title":"Circling seizures in a case with Wilson\u2019s disease","volume":"30","author":"Saka","year":"1999","journal-title":"Clin Electroencephalogr"},{"key":"2025111304551247000_25.6.558.6","doi-asserted-by":"publisher","DOI":"10.4065\/81.10.1371"},{"key":"2025111304551247000_25.6.558.7","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1002\/mdc3.13813","article-title":"Can Patients with Wilson\u2019s Disease Develop Copper Deficiency?","volume":"10","author":"Chevalier","year":"2023","journal-title":"Mov Disord Clin Pract"},{"key":"2025111304551247000_25.6.558.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2020.07.013"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2025-004598","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:55:50Z","timestamp":1763038550000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2025-004598"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,11]]},"references-count":8,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,11,13]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/pn-2025-004598"],"URL":"https:\/\/doi.org\/10.1136\/pn-2025-004598","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2025,7,11]]}}}