{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T16:39:55Z","timestamp":1782837595975,"version":"3.54.5"},"reference-count":11,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1016\/j.jns.2010.06.024","type":"journal-article","created":{"date-parts":[[2010,7,21]],"date-time":"2010-07-21T04:22:28Z","timestamp":1279686148000},"page":"104-106","source":"Crossref","is-referenced-by-count":7,"title":["Fluctuating neuromuscular transmission defects and inverse acetazolamide response in episodic ataxia type 2 associated with the novel CaV2.1 single amino acid substitution R2090Q"],"prefix":"10.1016","volume":"296","author":[{"given":"Nico","family":"Melzer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Classen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karlheinz","family":"Reiners","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Buttmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2010.06.024_bb0005","doi-asserted-by":"crossref","first-page":"2484","DOI":"10.1093\/brain\/awm126","article-title":"Primary episodic ataxias: diagnosis, pathogenesis and treatment","volume":"130","author":"Jen","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.jns.2010.06.024_bb0010","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1212\/WNL.33.10.1316","article-title":"Myasthenia gravis: long-term correlation of binding and bungarotoxin blocking antibodies against acetylcholine receptors with changes in disease severity","volume":"33","author":"Besinger","year":"1983","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.06.024_bb0015","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1212\/WNL.39.4.561","article-title":"End-plate dysfunction in acute organophosphate intoxication","volume":"39","author":"Besser","year":"1989","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.06.024_bb0020","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.20081","article-title":"Morvan's syndrome: clinical, laboratory, and in vitro electrophysiological studies","volume":"30","author":"L\u00f6scher","year":"2004","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jns.2010.06.024_bb0025","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1212\/01.wnl.0000176069.64200.28","article-title":"Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A","volume":"65","author":"Imbrici","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.06.024_bb0030","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.jns.2009.01.005","article-title":"Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene","volume":"280","author":"Cuenca-Le\u00f3n","year":"2009","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jns.2010.06.024_bb0035","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1212\/01.WNL.0000101675.61074.50","article-title":"Clinical spectrum of episodic ataxia type 2","volume":"62","author":"Jen","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.06.024_bb0040","doi-asserted-by":"crossref","first-page":"1843","DOI":"10.1212\/WNL.57.10.1843","article-title":"Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission","volume":"57","author":"Jen","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.06.024_bb0045","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1212\/01.WNL.0000099748.41130.9A","article-title":"Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2","volume":"61","author":"Maselli","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.06.024_bb0050","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1136\/jnnp.2006.105353","article-title":"Aggravation of ataxia due to acetazolamide induced hyperammonaemia in episodic ataxia","volume":"78","author":"Kim","year":"2007","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.jns.2010.06.024_bb0055","doi-asserted-by":"crossref","first-page":"10142","DOI":"10.1523\/JNEUROSCI.22-23-10142.2002","article-title":"Systematic identification of splice variants in human P\/Q-type channel alpha1(2.1) subunits: implications for current density and Ca2+-dependent inactivation","volume":"22","author":"Soong","year":"2002","journal-title":"J Neurosci"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X10002947?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X10002947?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,31]],"date-time":"2019-05-31T06:23:15Z","timestamp":1559283795000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X10002947"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":11,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["S0022510X10002947"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2010.06.024","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2010,9]]}}}