{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T16:40:00Z","timestamp":1782837600587,"version":"3.54.5"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T00:00:00Z","timestamp":1518480000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neurol Belg"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1007\/s13760-018-0895-y","type":"journal-article","created":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T02:20:53Z","timestamp":1518488453000},"page":"137-139","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis"],"prefix":"10.1007","volume":"118","author":[{"given":"Donghwi","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Hee","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun Jeong","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gyun-Jee","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5506-9206","authenticated-orcid":false,"given":"Jin-Sung","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,2,13]]},"reference":[{"key":"895_CR1","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Garimella K et al (2010) The genome analysis toolkit: a mapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297\u20131303","journal-title":"Genome Res"},{"key":"895_CR2","doi-asserted-by":"publisher","first-page":"2484","DOI":"10.1093\/brain\/awm126","volume":"130","author":"JC Jen","year":"2007","unstructured":"Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW (2007) Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 130:2484\u20132493","journal-title":"Brain"},{"key":"895_CR3","doi-asserted-by":"publisher","first-page":"2514","DOI":"10.1038\/s41598-017-02554-x","volume":"7","author":"C Sintas","year":"2017","unstructured":"Sintas C, Carreno O, Fernandez-Castillo N, Corominas R, Vila-Pueyo M, Toma C et al (2017) Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia. Sci Rep 7:2514","journal-title":"Sci Rep"},{"key":"895_CR4","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.ejpn.2014.10.005","volume":"19","author":"S Kinder","year":"2015","unstructured":"Kinder S, Ossig C, Wienecke M, Beyer A, von der Hagen M, Storch A, Smitka M (2015) Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. Eur J Paediatr Neurol 19:72\u201374","journal-title":"Eur J Paediatr Neurol"},{"key":"895_CR5","doi-asserted-by":"publisher","first-page":"e56362","DOI":"10.1371\/journal.pone.0056362","volume":"8","author":"Y Hu","year":"2013","unstructured":"Hu Y, Jiang H, Wang Q, Xie Z, Pan S (2013) Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. PLoS One 8:e56362","journal-title":"PLoS One"},{"key":"895_CR6","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1016\/S0092-8674(00)81373-2","volume":"87","author":"RA Ophoff","year":"1996","unstructured":"Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM et al (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87:543\u2013552","journal-title":"Cell"},{"key":"895_CR7","doi-asserted-by":"publisher","first-page":"1843","DOI":"10.1212\/WNL.57.10.1843","volume":"57","author":"J Jen","year":"2001","unstructured":"Jen J, Wan J, Graves M, Yu H, Mock AF, Coulin CJ et al (2001) Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology 57:1843\u20131848","journal-title":"Neurology"},{"key":"895_CR8","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.jns.2017.07.040","volume":"381","author":"M Shimmura","year":"2017","unstructured":"Shimmura M, Uehara T, Yamashita K, Shigeto H, Yamasaki R, Ishikawa K et al (2017) Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation. J Neurol Sci 381:4\u20136","journal-title":"J Neurol Sci"},{"key":"895_CR9","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.nbd.2017.07.004","volume":"106","author":"K Dorgans","year":"2017","unstructured":"Dorgans K, Salvi J, Bertaso F, Bernard L, Lory P, Doussau F et al (2017) Characterization of the dominant inheritance mechanism of episodic ataxia type 2. Neurobiol Dis 106:110\u2013123","journal-title":"Neurobiol Dis"}],"container-title":["Acta Neurologica Belgica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13760-018-0895-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-018-0895-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-018-0895-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,12]],"date-time":"2019-02-12T20:37:01Z","timestamp":1550003821000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s13760-018-0895-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,13]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["895"],"URL":"https:\/\/doi.org\/10.1007\/s13760-018-0895-y","relation":{},"ISSN":["0300-9009","2240-2993"],"issn-type":[{"value":"0300-9009","type":"print"},{"value":"2240-2993","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,13]]},"assertion":[{"value":"14 December 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 February 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 February 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that there is no conflict of interest regarding this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This article does not contain any studies with human participants performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethnical approval"}},{"value":"Informed consent was obtained from the patient included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}