{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:01:47Z","timestamp":1791396107686,"version":"4.3.3"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2017,9,11]],"date-time":"2017-09-11T00:00:00Z","timestamp":1505088000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","award":["22129001"],"award-info":[{"award-number":["22129001"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","award":["22129002"],"award-info":[{"award-number":["22129002"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry of Health, Welfare and Labour, Japan","award":["H23-Jitsuyoka (Nanbyo)-Ippan-004, and H26-Jitsuyoka (Nanbyo)-Ippan-080"],"award-info":[{"award-number":["H23-Jitsuyoka (Nanbyo)-Ippan-004, and H26-Jitsuyoka (Nanbyo)-Ippan-080"]}]},{"name":"Japan Agency for Medical Research and development, AMED","award":["16kk0205001h0001"],"award-info":[{"award-number":["16kk0205001h0001"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1007\/s12311-017-0883-4","type":"journal-article","created":{"date-parts":[[2017,9,11]],"date-time":"2017-09-11T12:42:50Z","timestamp":1505133770000},"page":"237-242","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia"],"prefix":"10.1007","volume":"17","author":[{"given":"Masanori","family":"Kurihara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2975-7309","authenticated-orcid":false,"given":"Hiroyuki","family":"Ishiura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuya","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juuri","family":"Otsuka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuo","family":"Terao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Matsukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Mitsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juntaro","family":"Kaneko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazutoshi","family":"Nishiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichiro","family":"Doi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Yoshimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Morishita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,9,11]]},"reference":[{"key":"883_CR1","unstructured":"Bird TD. Hereditary ataxia overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132016."},{"issue":"1","key":"883_CR2","first-page":"37","volume":"87","author":"J Spillane","year":"2016","unstructured":"Spillane J, Kullmann DM, Hanna MG. Genetic neurological channelopathies: molecular genetics and clinical phenotypes. J Neurol Neurosurg Psychiatry. 2016;87(1):37\u201348.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"6","key":"883_CR3","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1093\/brain\/awx081","volume":"140","author":"M Coutelier","year":"2017","unstructured":"Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, et al. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain. 2017;140(6):1579\u201394.","journal-title":"Brain"},{"issue":"6","key":"883_CR4","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1002\/ana.23700","volume":"72","author":"A Duarri","year":"2012","unstructured":"Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol. 2012;72(6):870\u201380.","journal-title":"Ann Neurol"},{"issue":"6","key":"883_CR5","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/ana.23701","volume":"72","author":"YC Lee","year":"2012","unstructured":"Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol. 2012;72(6):859\u201369.","journal-title":"Ann Neurol"},{"issue":"5","key":"883_CR6","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1111\/ncn3.12004","volume":"3","author":"Y Wang","year":"2015","unstructured":"Wang Y, Koh K, Namekawa M, Takiyamal Y. Whole-exome sequencing reveals a missense mutation in the KCND3 gene in a patient with SCA19\/22. Neurol Clin Neurosci. 2015;3(5):197\u20139.","journal-title":"Neurol Clin Neurosci"},{"key":"883_CR7","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s12881-015-0200-3","volume":"16","author":"K Smets","year":"2015","unstructured":"Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Z\u00fcchner S, et al. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Med Genet. 2015;16:51.","journal-title":"BMC Med Genet"},{"issue":"14","key":"883_CR8","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754\u201360.","journal-title":"Bioinformatics"},{"issue":"16","key":"883_CR9","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment\/map format and SAMtools. Bioinformatics. 2009;25(16):2078\u20139.","journal-title":"Bioinformatics"},{"issue":"8","key":"883_CR10","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1002\/ajmg.b.32100","volume":"159B","author":"J Mitsui","year":"2012","unstructured":"Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, et al. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012;159B(8):951\u20137.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"4","key":"883_CR11","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/jbmr.2091","volume":"29","author":"T Isojima","year":"2014","unstructured":"Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, et al. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. J Bone Miner Res. 2014;29(4):992\u20138.","journal-title":"J Bone Miner Res"},{"key":"883_CR12","unstructured":"Exome Aggregation Consortium (ExAC). Cambridge, MA. Available at: \nhttp:\/\/exac.broadinstitute.org\n\n. Accessed January 2017."},{"issue":"2","key":"883_CR13","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/s004150170245","volume":"248","author":"HJ Schelhaas","year":"2001","unstructured":"Schelhaas HJ, Ippel PF, Hageman G, Sinke RJ, van der Laan EN, Beemer FA. Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. J Neurol. 2001;248(2):113\u201320.","journal-title":"J Neurol"},{"issue":"4","key":"883_CR14","first-page":"199","volume":"103","author":"HJ Schelhaas","year":"2003","unstructured":"Schelhaas HJ, van de Warrenburg BP, Hageman G, Ippel EE, van Hout M, Kremer B. Cognitive impairment in SCA-19. Acta Neurol Belg. 2003;103(4):199\u2013205.","journal-title":"Acta Neurol Belg"},{"issue":"5","key":"883_CR15","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1152\/jn.1996.75.5.2174","volume":"75","author":"P Ser\u00f4dio","year":"1996","unstructured":"Ser\u00f4dio P, Vega-Saenz de Miera E, Rudy B. Cloning of a novel component of A-type K+ channels operating at subthreshold potentials with unique expression in heart and brain. J Neurophysiol. 1996;75(5):217\u201349.","journal-title":"J Neurophysiol"},{"issue":"1","key":"883_CR16","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1085\/jgp.115.1.33","volume":"115","author":"Y Li-Smerin","year":"2000","unstructured":"Li-Smerin Y, Hackos DH, Swartz KJ. Alpha-helical structural elements within the voltage-sensing domains of a K(+) channel. J Gen Physiol. 2000;115(1):33\u201350.","journal-title":"J Gen Physiol"},{"issue":"17","key":"883_CR17","doi-asserted-by":"crossref","first-page":"3387","DOI":"10.1007\/s00018-015-1894-2","volume":"72","author":"A Duarri","year":"2015","unstructured":"Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, et al. Spinocerebellar ataxia type 19\/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. Cell Mol Life Sci. 2015;72(17):3387\u201399.","journal-title":"Cell Mol Life Sci"},{"issue":"2","key":"883_CR18","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.molbrainres.2004.06.024","volume":"128","author":"H Xiong","year":"2004","unstructured":"Xiong H, Kovacs I, Zhang Z. Differential distribution of KChIPs mRNAs in adult mouse brain. Brain Res Mol Brain Res. 2004;128(2):103\u201311.","journal-title":"Brain Res Mol Brain Res"},{"issue":"3\u20134","key":"883_CR19","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s10048-013-0375-8","volume":"14","author":"C Ohba","year":"2013","unstructured":"Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, et al. Diagnostic utility of whole exome sequencing in patients showing cerebellar and\/or vermis atrophy in childhood. Neurogenetics. 2013;14(3\u20134):225\u201332.","journal-title":"Neurogenetics"},{"issue":"1","key":"883_CR20","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/humu.22451","volume":"35","author":"SL Sawyer","year":"2014","unstructured":"Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, et al. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat. 2014;35(1):45\u20139.","journal-title":"Hum Mutat"},{"issue":"10","key":"883_CR21","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1001\/jamaneurol.2014.1944","volume":"71","author":"BL Fogel","year":"2014","unstructured":"Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, et al. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014;71(10):1237\u201346.","journal-title":"JAMA Neurol"},{"issue":"2","key":"883_CR22","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1006\/geno.2000.6117","volume":"64","author":"D Isbrandt","year":"2000","unstructured":"Isbrandt D, Leicher T, Waldsch\u00fctz R, Zhu X, Luhmann U, Michel U, et al. Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA). Genomics. 2000;64(2):144\u201354.","journal-title":"Genomics"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12311-017-0883-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-017-0883-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-017-0883-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,13]],"date-time":"2018-03-13T04:21:11Z","timestamp":1520914871000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12311-017-0883-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,11]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["883"],"URL":"https:\/\/doi.org\/10.1007\/s12311-017-0883-4","relation":{},"ISSN":["1473-4222","1473-4230"],"issn-type":[{"value":"1473-4222","type":"print"},{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,11]]}}}