{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T21:35:12Z","timestamp":1788298512100,"version":"build-2803163510"},"reference-count":12,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T00:00:00Z","timestamp":1375660800000},"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":["Cephalalgia"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A, ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G&gt;A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0333102413498941","type":"journal-article","created":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T23:44:12Z","timestamp":1375746252000},"page":"68-72","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":31,"title":["A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy"],"prefix":"10.1177","volume":"34","author":[{"given":"Cinzia","family":"Costa","sequence":"first","affiliation":[{"name":"Clinica Neurologica, Universit\u00e0 di Perugia, Ospedale S. Maria della Misericordia, Italy"},{"name":"Fondazione Santa Lucia, IRCCS, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Prontera","sequence":"additional","affiliation":[{"name":"Sezione di Genetica Medica, Dipartimento di Medicina Clinica e Sperimentale, Universit\u00e0 di Perugia, Ospedale S. Maria della Misericordia, Italy"},{"name":"Dipartimento di Medicina Sperimentale e Scienze Biochimiche, Universit\u00e0 di Perugia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Sarchielli","sequence":"additional","affiliation":[{"name":"Clinica Neurologica, Universit\u00e0 di Perugia, Ospedale S. Maria della Misericordia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Tonelli","sequence":"additional","affiliation":[{"name":"IRCCS E. Medea, Laboratorio di Biologia Molecolare, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Bassi","sequence":"additional","affiliation":[{"name":"IRCCS E. Medea, Laboratorio di Biologia Molecolare, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Letizia Maria","family":"Cupini","sequence":"additional","affiliation":[{"name":"Centro Cefalee, UOC Neurologia, Ospedale S Eugenio, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Caproni","sequence":"additional","affiliation":[{"name":"Clinica Neurologica, Universit\u00e0 di Perugia, Ospedale S. Maria della Misericordia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Siliquini","sequence":"additional","affiliation":[{"name":"Clinica Neurologica, Universit\u00e0 di Perugia, Ospedale S. Maria della Misericordia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Donti","sequence":"additional","affiliation":[{"name":"Sezione di Genetica Medica, Dipartimento di Medicina Clinica e Sperimentale, Universit\u00e0 di Perugia, Ospedale S. Maria della Misericordia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Calabresi","sequence":"additional","affiliation":[{"name":"Clinica Neurologica, Universit\u00e0 di Perugia, Ospedale S. Maria della Misericordia, Italy"},{"name":"Fondazione Santa Lucia, IRCCS, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,8,5]]},"reference":[{"key":"bibr1-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(06)70348-9"},{"key":"bibr2-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10674"},{"key":"bibr3-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.6.709"},{"key":"bibr4-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1016\/j.mehy.2007.11.013"},{"key":"bibr5-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01415.x"},{"key":"bibr6-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-2982.2006.01002.x"},{"key":"bibr7-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70048-5"},{"key":"bibr8-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1021\/bi00077a029"},{"key":"bibr9-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.39087.691817.AE"},{"key":"bibr10-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.11.014"},{"key":"bibr11-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1086\/319516"},{"key":"bibr12-0333102413498941","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2006.01.019"}],"container-title":["Cephalalgia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0333102413498941","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0333102413498941","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0333102413498941","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T14:47:24Z","timestamp":1777387644000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0333102413498941"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,5]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1177\/0333102413498941"],"URL":"https:\/\/doi.org\/10.1177\/0333102413498941","relation":{},"ISSN":["0333-1024","1468-2982"],"issn-type":[{"value":"0333-1024","type":"print"},{"value":"1468-2982","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,5]]}}}