{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:50:52Z","timestamp":1767340252324,"version":"3.44.0"},"reference-count":22,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,9,18]]},"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:p>Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic therapy with verapamil. Late-onset HM should be considered among the possible causes of focal neurological deficits even in older patients with cerebrovascular risk factors when a stroke appears to be more likely.<\/jats:p>","DOI":"10.1136\/bcr-2019-231129","type":"journal-article","created":{"date-parts":[[2019,10,5]],"date-time":"2019-10-05T14:59:06Z","timestamp":1570287546000},"page":"e231129","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraine"],"prefix":"10.1136","volume":"12","author":[{"given":"Marianna Gabriella","family":"Rispoli","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Imaging and Clinical Sciences, \"G. d\u2019 annunzio\" University, Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Di Stefano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Imaging and Clinical Sciences, \"G. d\u2019 annunzio\" University, Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elide","family":"Mantuano","sequence":"additional","affiliation":[{"name":"Institute of Translational Pharmacology, National Research Council of Italy, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Vittoria","family":"De Angelis","sequence":"additional","affiliation":[{"name":"Department of Neurology, SS Annunziata Hospital, Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,10,5]]},"reference":[{"key":"2025082710530316000_12.10.e231129.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70048-5"},{"key":"2025082710530316000_12.10.e231129.2","doi-asserted-by":"publisher","DOI":"10.1007\/s11916-004-0056-2"},{"key":"2025082710530316000_12.10.e231129.3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-2982.2002.00371.x"},{"key":"2025082710530316000_12.10.e231129.4","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-012-0208-3"},{"key":"2025082710530316000_12.10.e231129.5","doi-asserted-by":"publisher","DOI":"10.1177\/0333102411415878"},{"key":"2025082710530316000_12.10.e231129.6","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1743-5013.2006.00037.x","article-title":"Hemiplegic migraine: clinical features, links with Basilar-type migraine, current and future treatment","volume":"3","author":"Ducros","year":"2006","journal-title":"Headache Currents"},{"key":"2025082710530316000_12.10.e231129.7","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182752cb8"},{"key":"2025082710530316000_12.10.e231129.8","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000046524.25369.7D"},{"key":"2025082710530316000_12.10.e231129.9","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f25e8f"},{"key":"2025082710530316000_12.10.e231129.10","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.braindev.2011.11.002","article-title":"Sporadic hemiplegic migraine presenting as acute encephalopathy","volume":"34","author":"Ohmura","year":"2012","journal-title":"Brain Dev"},{"key":"2025082710530316000_12.10.e231129.11","first-page":"1","article-title":"Sporadic hemiplegic migraine with seizures and transient MRI abnormalities","volume":"2011","author":"Bhatia","year":"2011","journal-title":"Case Rep Neurol Med"},{"key":"2025082710530316000_12.10.e231129.12","doi-asserted-by":"crossref","unstructured":"Nagarajan E , Bollu PC , Manjamalai S , et al . White matter hyperintensities in patients with sporadic hemiplegic migraine. Journal of Neuroimaging 2019;33.doi:10.1111\/jon.12656","DOI":"10.1111\/jon.12656"},{"key":"2025082710530316000_12.10.e231129.13","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1111\/head.12298","article-title":"Hemiplegic migraine: neuroimaging findings during a hemiplegic migraine attack","volume":"54","author":"Sugrue","year":"2014","journal-title":"Headache"},{"key":"2025082710530316000_12.10.e231129.14","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-2982.1991.1102069.x"},{"key":"2025082710530316000_12.10.e231129.15","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.jns.2018.06.019","article-title":"Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2","volume":"392","author":"Roth","year":"2018","journal-title":"J Neurol Sci"},{"key":"2025082710530316000_12.10.e231129.16","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1007\/s00234-003-0979-z","article-title":"Serial MRI in a case of familial hemiplegic migraine","volume":"45","author":"Butteriss","year":"2003","journal-title":"Neuroradiology"},{"key":"2025082710530316000_12.10.e231129.17","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1212\/01.WNL.0000042051.16284.70","article-title":"Treatment of sporadic hemiplegic migraine with calcium-channel blocker verapamil","volume":"60","author":"Yu","year":"2003","journal-title":"Neurology"},{"key":"2025082710530316000_12.10.e231129.18","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200421227"},{"key":"2025082710530316000_12.10.e231129.19","doi-asserted-by":"crossref","unstructured":"Coban A , Shugaiv E , T\u00fcz\u00fcn E . Syndrome of headache accompanied with transient neurologic deficits and cerebrospinal fluid lymphocytosis. N\u00f6ro Psikiyatri Ar\u015fivi 2013;50(Suppl 1).","DOI":"10.4274\/npa.y7228"},{"key":"2025082710530316000_12.10.e231129.20","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000295670.01629.5a"},{"key":"2025082710530316000_12.10.e231129.21","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2006.103267"},{"key":"2025082710530316000_12.10.e231129.22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1526-4610.2010.01793.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-231129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:53:07Z","timestamp":1756317187000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-231129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10]]},"references-count":22,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2019,10,5]]},"published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1136\/bcr-2019-231129"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-231129","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2019,10]]}}}