{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:41:49Z","timestamp":1791898909412,"version":"4.3.4"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,5,27]],"date-time":"2004-05-27T00:00:00Z","timestamp":1085616000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alternating hemiplegia of childhood (AHC) is typically distinguished from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Expansion of the clinical spectrum in FHM recently has begun to blur the distinction between these disorders. We report a novel <jats:italic>ATP1A2<\/jats:italic> mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases. Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the <jats:italic>ATP1A2<\/jats:italic> locus could not be excluded failed to identify additional mutations. Ann Neurol 2004;55:884\u2013887<\/jats:p>","DOI":"10.1002\/ana.20134","type":"journal-article","created":{"date-parts":[[2004,5,27]],"date-time":"2004-05-27T21:02:40Z","timestamp":1085691760000},"page":"884-887","source":"Crossref","is-referenced-by-count":145,"title":["Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel <i>ATP1A2<\/i> mutation"],"prefix":"10.1002","volume":"55","author":[{"given":"Kathryn J.","family":"Swoboda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Kanavakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina","family":"Xaidara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine E.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark F.","family":"Leppert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mylynda B.","family":"Schlesinger\u2010Massart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis J.","family":"Ptacek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"Silver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sotiris","family":"Youroukos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,5,27]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(06)80003-X"},{"key":"e_1_2_6_3_2","first-page":"3","volume-title":"Alternating hemiplegia of childhood","author":"Aicardi J","year":"1995"},{"key":"e_1_2_6_4_2","unstructured":"SwobodaKJ SilverK Schlessinger\u2010MassartM et al.International Alternating Hemiplegia of Childhood Database unpublished observations:1998\u20132004."},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.12.2251"},{"key":"e_1_2_6_6_2","first-page":"57","volume-title":"Alternating hemiplegia of childhood","author":"Becker L","year":"1995"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307380001500212"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1081"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10464"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10674"},{"key":"e_1_2_6_11_2","volume-title":"Preparation and analysis of DNA. Current protocols in molecular biology","author":"Ausubel FM","year":"1988"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2003.tb00899.x"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20134","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20134","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T14:01:14Z","timestamp":1697464874000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20134"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,27]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["10.1002\/ana.20134"],"URL":"https:\/\/doi.org\/10.1002\/ana.20134","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,27]]}}}