{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T05:33:58Z","timestamp":1789450438112,"version":"build-2803163510"},"reference-count":10,"publisher":"BMJ","issue":"4","funder":[{"DOI":"10.13039\/501100022572","name":"NIHR Sheffield Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100022572","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,11,5]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>\n                    <jats:italic>ATP1A2<\/jats:italic>\n                    (OMIM 182340) encodes the \u03b12 subunit of Na+\/K+-ATPase. Variation in this gene has been associated with a spectrum of clinical phenotypes, including familial hemiplegic migraine type 2 (FHM2), epilepsy and intellectual disability. A 22-year-old woman with intellectual disability, hemiplegic migraine and epilepsy presented with persistent decreased consciousness, unexplained by initial investigations. Two weeks later, repeat imaging showed new, marked cerebral oedema with no identified cause; this eventually resolved. A year later, she had a further milder episode. An epilepsy gene panel identified a likely pathogenic missense variant in the\n                    <jats:italic>ATP1A2<\/jats:italic>\n                    gene (NM_000702.3: c.1027A&gt;C, p.(Thr343Pro)). After starting memantine as a targeted treatment, her migraine and seizure frequency reduced. This case highlights the importance of early genetic testing in certain people with epilepsy to determine the cause and enable targeted therapeutic interventions.\n                  <\/jats:p>","DOI":"10.1136\/pn-2025-004659","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T18:20:18Z","timestamp":1764094818000},"page":"357-361","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Prolonged coma and cerebral oedema in a patient with an\n                    <i>ATP1A2<\/i>\n                    variant"],"prefix":"10.1136","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6622-9725","authenticated-orcid":false,"given":"Sophie L","family":"Voase","sequence":"first","affiliation":[{"name":"Department of Neurology, University Hospital of Wales, Cardiff, UK"},{"name":"The University of Sheffield Institute for Translational Neuroscience, Sheffield, England, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew E","family":"Fry","sequence":"additional","affiliation":[{"name":"All Wales Medical Genomics Service, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, Wales, UK"},{"name":"Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, Wales, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Hamandi","sequence":"additional","affiliation":[{"name":"The Welsh Epilepsy Unit, Department of Neurology, University Hospital of Wales, Cardiff, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,11,25]]},"reference":[{"key":"2026071405250882000_26.4.357.1","unstructured":"Durkie M , Cassidy E-J , Berry I , et al . ACGS best practice guidelines for variant classification in rare disease 2024. 2024."},{"key":"2026071405250882000_26.4.357.2","doi-asserted-by":"crossref","DOI":"10.1016\/j.yebeh.2020.107732","article-title":"Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations","volume":"116","author":"Moya-Mendez","year":"2021","journal-title":"Epilepsy Behav"},{"key":"2026071405250882000_26.4.357.3","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/epd2.20220","article-title":"ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients","volume":"26","author":"C\u00f3rdoba","year":"2024","journal-title":"Epileptic Disord"},{"key":"2026071405250882000_26.4.357.4","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13823"},{"key":"2026071405250882000_26.4.357.5","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1186\/s10194-021-01309-4","article-title":"Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms","volume":"22","author":"Li","year":"2021","journal-title":"J Headache Pain"},{"key":"2026071405250882000_26.4.357.6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f25e8f"},{"key":"2026071405250882000_26.4.357.7","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1097\/WNP.0000000000000387","article-title":"Familial Hemiplegic Migraine With Asymmetric Encephalopathy Secondary to ATP1A2 Mutation: A Case Series","volume":"35","author":"Murphy","year":"2018","journal-title":"J Clin Neurophysiol"},{"key":"2026071405250882000_26.4.357.8","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1177\/0333102416651284","article-title":"Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation","volume":"37","author":"Pelzer","year":"2017","journal-title":"Cephalalgia"},{"key":"2026071405250882000_26.4.357.9","doi-asserted-by":"crossref","DOI":"10.1038\/srep22047","article-title":"Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model","volume":"6","author":"B\u00f8ttger","year":"2016","journal-title":"Sci Rep"},{"key":"2026071405250882000_26.4.357.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2007.07.013"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2025-004659","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T12:25:23Z","timestamp":1784031923000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2025-004659"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,25]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,7,14]]},"published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1136\/pn-2025-004659"],"URL":"https:\/\/doi.org\/10.1136\/pn-2025-004659","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,25]]}}}