{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T11:40:32Z","timestamp":1783338032845,"version":"3.54.6"},"reference-count":71,"publisher":"XMLink","issue":"6","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["NRF-2021R1F1A1063826"],"award-info":[{"award-number":["NRF-2021R1F1A1063826"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["thejcn.com"],"crossmark-restriction":false},"short-container-title":["J Clin Neurol"],"published-print":{"date-parts":[[2024]]},"DOI":"10.3988\/jcn.2024.0274","type":"journal-article","created":{"date-parts":[[2024,10,28]],"date-time":"2024-10-28T07:50:58Z","timestamp":1730101858000},"page":"563","update-policy":"https:\/\/doi.org\/10.3988\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia"],"prefix":"10.3988","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2983-8697","authenticated-orcid":false,"given":"Seoyeon","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Neurology, Seoul National University Hospital, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1508-2024","authenticated-orcid":false,"given":"Ji-Soo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Medicine, Seoul National University, Seoul, Korea."},{"name":"Department of Neurology, Clinical Neuroscience Center, Seoul National University Bundang Hospital, Seongnam, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4410-646X","authenticated-orcid":false,"given":"Seung-Han","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chonnam National University Medical School, Gwangju, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0483-4179","authenticated-orcid":false,"given":"Jae-Myung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chonnam National University Medical School, Gwangju, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8578-8578","authenticated-orcid":false,"given":"Seunghee","family":"Na","sequence":"additional","affiliation":[{"name":"Department of Neurology, Incheon St. Mary\u2019s Hospital, The Catholic University of Korea, Incheon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4120-9228","authenticated-orcid":false,"given":"Jae-Hwan","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2027-6341","authenticated-orcid":false,"given":"Hyo-Jung","family":"Kim","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute, Seoul National University Bundang Hospital, Seongnam, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"18617","reference":[{"key":"10.3988\/jcn.2024.0274_ref1","doi-asserted-by":"crossref","first-page":"2484","DOI":"10.1093\/brain\/awm126","volume":"130","author":"Jen","year":"2007","journal-title":"Brain"},{"key":"10.3988\/jcn.2024.0274_ref2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1212\/01.WNL.0000101675.61074.50","volume":"62","author":"Jen","year":"2004","journal-title":"Neurology"},{"key":"10.3988\/jcn.2024.0274_ref3","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1212\/WNL.28.12.1259","volume":"28","author":"Griggs","year":"1978","journal-title":"Neurology"},{"key":"10.3988\/jcn.2024.0274_ref4","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1212\/01.WNL.0000125691.74109.53","volume":"62","author":"Strupp","year":"2004","journal-title":"Neurology"},{"key":"10.3988\/jcn.2024.0274_ref5","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0092-8674(00)81373-2","volume":"87","author":"Ophoff","year":"1996","journal-title":"Cell"},{"key":"10.3988\/jcn.2024.0274_ref6","doi-asserted-by":"crossref","first-page":"268","DOI":"10.3988\/jcn.2006.2.4.268","volume":"2","author":"Kim","year":"2006","journal-title":"J Clin Neurol"},{"key":"10.3988\/jcn.2024.0274_ref7","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng0197-62","volume":"15","author":"Zhuchenko","year":"1997","journal-title":"Nat Genet"},{"key":"10.3988\/jcn.2024.0274_ref8","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/S0140-6736(01)05971-2","volume":"358","author":"Jouvenceau","year":"2001","journal-title":"Lancet"},{"key":"10.3988\/jcn.2024.0274_ref9","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1001\/archneur.62.2.314","volume":"62","author":"Spacey","year":"2005","journal-title":"Arch Neurol"},{"key":"10.3988\/jcn.2024.0274_ref10","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1212\/WNL.53.1.34","volume":"53","author":"Jen","year":"1999","journal-title":"Neurology"},{"key":"10.3988\/jcn.2024.0274_ref11","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1056\/NEJM200107053450103","volume":"345","author":"Ducros","year":"2001","journal-title":"N Engl J Med"},{"key":"10.3988\/jcn.2024.0274_ref12","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ana.410410105","volume":"41","author":"Baloh","year":"1997","journal-title":"Ann Neurol"},{"key":"10.3988\/jcn.2024.0274_ref13","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.1093\/hmg\/6.11.1973","volume":"6","author":"Jodice","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.3988\/jcn.2024.0274_ref14","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1086\/301613","volume":"61","author":"Yue","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.3988\/jcn.2024.0274_ref15","doi-asserted-by":"crossref","first-page":"3010","DOI":"10.1007\/s00415-013-7099-4","volume":"260","author":"Kipfer","year":"2013","journal-title":"J Neurol"},{"key":"10.3988\/jcn.2024.0274_ref16","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1196\/annals.1325.070","volume":"1039","author":"Rucker","year":"2005","journal-title":"Ann N Y Acad Sci"},{"key":"10.3988\/jcn.2024.0274_ref17","doi-asserted-by":"crossref","first-page":"726","DOI":"10.3988\/jcn.2022.18.6.726","volume":"18","author":"Kim","year":"2022","journal-title":"J Clin Neurol"},{"key":"10.3988\/jcn.2024.0274_ref18","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1159\/000315145","volume":"64","author":"Jung","year":"2010","journal-title":"Eur Neurol"},{"key":"10.3988\/jcn.2024.0274_ref19","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s13760-018-0895-y","volume":"118","author":"Park","year":"2018","journal-title":"Acta Neurol Belg"},{"key":"10.3988\/jcn.2024.0274_ref20","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1113\/jphysiol.2009.186437","volume":"588","author":"Rajakulendran","year":"2010","journal-title":"J Physiol"},{"key":"10.3988\/jcn.2024.0274_ref21","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.jns.2017.07.040","volume":"381","author":"Shimmura","year":"2017","journal-title":"J Neurol Sci"},{"key":"10.3988\/jcn.2024.0274_ref22","doi-asserted-by":"crossref","first-page":"4296","DOI":"10.1007\/s00415-021-10555-0","volume":"268","author":"Verriello","year":"2021","journal-title":"J Neurol"},{"key":"10.3988\/jcn.2024.0274_ref23","doi-asserted-by":"crossref","first-page":"639994","DOI":"10.3389\/fneur.2021.639994","volume":"12","author":"Indelicato","year":"2021","journal-title":"Front Neurol"},{"key":"10.3988\/jcn.2024.0274_ref24","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s12311-014-0547-6","volume":"13","author":"Kim","year":"2014","journal-title":"Cerebellum"},{"key":"10.3988\/jcn.2024.0274_ref25","doi-asserted-by":"crossref","first-page":"2687","DOI":"10.1007\/s00415-021-10856-4","volume":"269","author":"Choi","year":"2022","journal-title":"J Neurol"},{"key":"10.3988\/jcn.2024.0274_ref26","doi-asserted-by":"crossref","first-page":"13855","DOI":"10.1038\/s41598-017-14254-7","volume":"7","author":"Choi","year":"2017","journal-title":"Sci Rep"},{"key":"10.3988\/jcn.2024.0274_ref27","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1097\/MLG.0b013e31805c08ac","volume":"117","author":"Choi","year":"2007","journal-title":"Laryngoscope"},{"key":"10.3988\/jcn.2024.0274_ref28","doi-asserted-by":"crossref","first-page":"51","DOI":"10.3988\/jcn.2010.6.2.51","volume":"6","author":"Lee","year":"2010","journal-title":"J Clin Neurol"},{"key":"10.3988\/jcn.2024.0274_ref29","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1001\/archneur.1988.00520310043015","volume":"45","author":"Halmagyi","year":"1988","journal-title":"Arch Neurol"},{"key":"10.3988\/jcn.2024.0274_ref30","doi-asserted-by":"crossref","first-page":"203","DOI":"10.3988\/jcn.2013.9.4.203","volume":"9","author":"Huh","year":"2013","journal-title":"J Clin Neurol"},{"key":"10.3988\/jcn.2024.0274_ref31","doi-asserted-by":"crossref","first-page":"2238","DOI":"10.1212\/WNL.0000000000001640","volume":"84","author":"Choi","year":"2015","journal-title":"Neurology"},{"key":"10.3988\/jcn.2024.0274_ref32","doi-asserted-by":"crossref","first-page":"e2135","DOI":"10.1212\/WNL.90.15_supplement.P2.135","volume":"90","author":"Lee","year":"2018","journal-title":"Neurology"},{"key":"10.3988\/jcn.2024.0274_ref33","doi-asserted-by":"crossref","first-page":"74","DOI":"10.3988\/jcn.2009.5.2.74","volume":"5","author":"Yang","year":"2009","journal-title":"J Clin Neurol"},{"key":"10.3988\/jcn.2024.0274_ref34","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1007\/s00415-018-8868-x","volume":"265","author":"Lee","year":"2018","journal-title":"J Neurol"},{"key":"10.3988\/jcn.2024.0274_ref35","doi-asserted-by":"crossref","first-page":"e744","DOI":"10.1097\/MAO.0000000000002645","volume":"41","author":"Lee","year":"2020","journal-title":"Otol Neurotol"},{"key":"10.3988\/jcn.2024.0274_ref36","volume-title":"Wechsler Adult Intelligence Scale\u2013Fourth Edition (WAIS-IV)","author":"Wechsler","year":"2008"},{"key":"10.3988\/jcn.2024.0274_ref37","doi-asserted-by":"crossref","first-page":"213","DOI":"10.15842\/cprp.2019.5.2.213","volume":"5","author":"Jung","year":"2019","journal-title":"Clin Psychol Korea Res Pract"},{"key":"10.3988\/jcn.2024.0274_ref38","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1007\/s10072-013-1298-8","volume":"34","author":"Choi","year":"2013","journal-title":"Neurol Sci"},{"key":"10.3988\/jcn.2024.0274_ref39","doi-asserted-by":"crossref","first-page":"eaaz7835","DOI":"10.1126\/sciadv.aaz7835","volume":"6","author":"Jeon","year":"2020","journal-title":"Sci Adv"},{"issue":"W1","key":"10.3988\/jcn.2024.0274_ref40","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","volume":"40","author":"Sim","year":"2012","journal-title":"Nu-cleic Acids Res"},{"key":"10.3988\/jcn.2024.0274_ref41","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"W1","key":"10.3988\/jcn.2024.0274_ref42","doi-asserted-by":"crossref","first-page":"W446","DOI":"10.1093\/nar\/gkab266","volume":"49","author":"Steinhaus","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"10.3988\/jcn.2024.0274_ref43","doi-asserted-by":"crossref","first-page":"e1001025","DOI":"10.1371\/journal.pcbi.1001025","volume":"6","author":"Davydov","year":"2010","journal-title":"PLoS Comput Biol"},{"key":"10.3988\/jcn.2024.0274_ref44","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1212\/01.WNL.0000031431.81555.16","volume":"60","author":"Shevell","year":"2003","journal-title":"Neurology"},{"issue":"F1000 Faculty Rev","key":"10.3988\/jcn.2024.0274_ref45","doi-asserted-by":"crossref","first-page":"22","DOI":"10.12688\/f1000research.16315.1","volume":"9","author":"Ilyas","year":"2020","journal-title":"F1000Res"},{"key":"10.3988\/jcn.2024.0274_ref46","doi-asserted-by":"crossref","first-page":"2723","DOI":"10.1523\/JNEUROSCI.2321-15.2016","volume":"36","author":"Ka","year":"2016","journal-title":"J Neurosci"},{"key":"10.3988\/jcn.2024.0274_ref47","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/0896-6273(95)90155-8","volume":"15","author":"Mintz","year":"1995","journal-title":"Neuron"},{"key":"10.3988\/jcn.2024.0274_ref48","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1111\/j.1749-6632.1999.tb11287.x","volume":"868","author":"Burgess","year":"1999","journal-title":"Ann N Y Acad Sci"},{"key":"10.3988\/jcn.2024.0274_ref49","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/S0959-4388(99)80040-3","volume":"9","author":"Jen","year":"1999","journal-title":"Curr Opin Neurobiol"},{"key":"10.3988\/jcn.2024.0274_ref50","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1054\/ceca.2000.0131","volume":"28","author":"Missiaen","year":"2000","journal-title":"Cell Calcium"},{"key":"10.3988\/jcn.2024.0274_ref51","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/j.cell.2007.11.028","volume":"131","author":"Clapham","year":"2007","journal-title":"Cell"},{"key":"10.3988\/jcn.2024.0274_ref52","doi-asserted-by":"crossref","first-page":"e78598","DOI":"10.1371\/journal.pone.0078598","volume":"8","author":"Mallmann","year":"2013","journal-title":"PLoS One"},{"key":"10.3988\/jcn.2024.0274_ref53","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1093\/hmg\/ddab149","volume":"30","author":"Bohne","year":"2021","journal-title":"Hum Mol Genet"},{"key":"10.3988\/jcn.2024.0274_ref54","doi-asserted-by":"crossref","first-page":"1816","DOI":"10.1212\/WNL.52.9.1816","volume":"52","author":"Denier","year":"1999","journal-title":"Neurology"},{"key":"10.3988\/jcn.2024.0274_ref55","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/j.1445-5994.1989.tb00216.x","volume":"19","author":"Feeney","year":"1989","journal-title":"Aust N Z J Med"},{"key":"10.3988\/jcn.2024.0274_ref56","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1136\/jnnp.55.3.212","volume":"55","author":"Hawkes","year":"1992","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.3988\/jcn.2024.0274_ref57","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/ana.410370304","volume":"37","author":"Vahedi","year":"1995","journal-title":"Ann Neurol"},{"key":"10.3988\/jcn.2024.0274_ref58","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1007\/s00415-002-0860-8","volume":"249","author":"van den Maagdenberg","year":"2002","journal-title":"J Neurol"},{"key":"10.3988\/jcn.2024.0274_ref59","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/s00401-004-0899-y","volume":"108","author":"Mochizuki","year":"2004","journal-title":"Acta Neuropathol"},{"key":"10.3988\/jcn.2024.0274_ref60","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.pediatrneurol.2008.07.030","volume":"39","author":"Guerin","year":"2008","journal-title":"Pediatr Neurol"},{"key":"10.3988\/jcn.2024.0274_ref61","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1212\/WNL.55.7.1040","volume":"55","author":"Vahedi","year":"2000","journal-title":"Neurology"},{"key":"10.3988\/jcn.2024.0274_ref62","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1007\/s00415-014-7310-2","volume":"261","author":"Nachbauer","year":"2014","journal-title":"J Neurol"},{"key":"10.3988\/jcn.2024.0274_ref63","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1038\/ejhg.2015.21","volume":"23","author":"Damaj","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.3988\/jcn.2024.0274_ref64","doi-asserted-by":"crossref","first-page":"3094","DOI":"10.1007\/s00415-021-10897-9","volume":"269","author":"Hommersom","year":"2022","journal-title":"J Neurol"},{"key":"10.3988\/jcn.2024.0274_ref65","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1111\/cge.14180","volume":"102","author":"Lipman","year":"2022","journal-title":"Clin Genet"},{"key":"10.3988\/jcn.2024.0274_ref66","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.neulet.2018.07.005","volume":"688","author":"Schmahmann","year":"2019","journal-title":"Neurosci Lett"},{"key":"10.3988\/jcn.2024.0274_ref67","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1007\/s12311-020-01155-1","volume":"19","author":"Van Overwalle","year":"2020","journal-title":"Cerebellum"},{"key":"10.3988\/jcn.2024.0274_ref68","doi-asserted-by":"crossref","first-page":"3921","DOI":"10.1007\/s00415-021-10486-w","volume":"268","author":"Jacobi","year":"2021","journal-title":"J Neurol"},{"key":"10.3988\/jcn.2024.0274_ref69","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.tics.2017.02.005","volume":"21","author":"Sokolov","year":"2017","journal-title":"Trends Cogn Sci"},{"key":"10.3988\/jcn.2024.0274_ref70","doi-asserted-by":"crossref","first-page":"109802","DOI":"10.1016\/j.ijporl.2019.109802","volume":"130","author":"Bigelow","year":"2020","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.3988\/jcn.2024.0274_ref71","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/ana.20169","volume":"56","author":"Spacey","year":"2004","journal-title":"Ann Neurol"}],"container-title":["Journal of Clinical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/thejcn.com\/pdf\/10.3988\/jcn.2024.0274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejcn.com\/DOIx.php?id=10.3988\/jcn.2024.0274","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejcn.com\/DOIx.php?id=10.3988\/jcn.2024.0274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T07:13:15Z","timestamp":1730445195000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejcn.com\/DOIx.php?id=10.3988\/jcn.2024.0274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":71,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.3988\/jcn.2024.0274","relation":{},"ISSN":["1738-6586","2005-5013"],"issn-type":[{"value":"1738-6586","type":"print"},{"value":"2005-5013","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"2024-06-13","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-01","name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-07","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-17","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"Copyright \u00a9 2024 Korean Neurological Association","name":"copyright","label":"Copyright","group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https:\/\/creativecommons.org\/licenses\/by-nc\/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.","name":"license","label":"License","explanation":{"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}