{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T19:23:43Z","timestamp":1777490623113,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T00:00:00Z","timestamp":1395187200000},"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":[[2014,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>SCN1A is the most relevant gene in epilepsy. Only seven SCN1A mutations have been identified in 10 familial hemiplegic migraine (FHM) kindreds worldwide.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases and kindreds<\/jats:title>\n                    <jats:p>In 2009, we presented a kindred with FHM due to the L263V SCN1A mutation. In the current study, we report a novel FHM3 kindred from the same village. The first family exhibited the co-occurrence of FHM and epilepsy. No case of epilepsy was observed in the new kindred. An L263V mutation was found in all patients, and the haplotype analysis supports a unique mutational event.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Comments<\/jats:title>\n                    <jats:p>Despite its bioelectric activity, the SCN1A L263V mutation most likely requires a combination of several endogenous or environmental induction stimuli to attain an epileptogenic threshold.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0333102414527015","type":"journal-article","created":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T23:44:38Z","timestamp":1395272678000},"page":"1015-1020","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":18,"title":["Familial hemiplegic migraine due to L263V\n                    <i>SCN1A<\/i>\n                    mutation: Discordance for epilepsy between two kindreds from Douro Valley"],"prefix":"10.1177","volume":"34","author":[{"given":"Jos\u00e9","family":"Barros","sequence":"first","affiliation":[{"name":"Hospital de Santo Ant\u00f3nio (HSA), Centro Hospitalar do Porto (CHP), Portugal"},{"name":"Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS), Universidade do Porto, Portugal"}]},{"given":"Augusto","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Entre Douro e Vouga (CHEDV), Santa Maria da Feira, Portugal"}]},{"given":"Ana F","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal"}]},{"given":"Carolina","family":"Lemos","sequence":"additional","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal"}]},{"given":"Fernando","family":"Correia","sequence":"additional","affiliation":[{"name":"Hospital de Santo Ant\u00f3nio (HSA), Centro Hospitalar do Porto (CHP), Portugal"}]},{"given":"Joana","family":"Dam\u00e1sio","sequence":"additional","affiliation":[{"name":"Hospital de Santo Ant\u00f3nio (HSA), Centro Hospitalar do Porto (CHP), Portugal"}]},{"given":"Assun\u00e7\u00e3o","family":"Tuna","sequence":"additional","affiliation":[{"name":"Hospital de Santo Ant\u00f3nio (HSA), Centro Hospitalar do Porto (CHP), Portugal"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS), Universidade do Porto, Portugal"},{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal"}]},{"given":"Paula","family":"Coutinho","sequence":"additional","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal"}]},{"given":"Isabel","family":"Alonso","sequence":"additional","affiliation":[{"name":"Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS), Universidade do Porto, Portugal"},{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal"}]},{"given":"Jos\u00e9","family":"Pereira-Monteiro","sequence":"additional","affiliation":[{"name":"Hospital de Santo Ant\u00f3nio (HSA), Centro Hospitalar do Porto (CHP), Portugal"},{"name":"Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS), Universidade do Porto, Portugal"},{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal"}]}],"member":"179","published-online":{"date-parts":[[2014,3,19]]},"reference":[{"key":"bibr1-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70048-5"},{"key":"bibr2-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02115.x"},{"key":"bibr3-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm002"},{"key":"bibr4-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)66786-4"},{"key":"bibr5-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9486"},{"key":"bibr6-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2007.06.016"},{"key":"bibr7-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12123"},{"key":"bibr8-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000345393.53132.8c"},{"key":"bibr9-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000130251.59422.B4"},{"key":"bibr10-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1186\/1129-2377-14-S1-P19"},{"key":"bibr11-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-2982.2008.01721.x"},{"key":"bibr12-0333102414527015","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0711717105"}],"container-title":["Cephalalgia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0333102414527015","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0333102414527015","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0333102414527015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T14:47:34Z","timestamp":1777387654000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0333102414527015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,19]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1177\/0333102414527015"],"URL":"https:\/\/doi.org\/10.1177\/0333102414527015","relation":{},"ISSN":["0333-1024","1468-2982"],"issn-type":[{"value":"0333-1024","type":"print"},{"value":"1468-2982","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,19]]}}}