{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T16:17:48Z","timestamp":1771258668072,"version":"3.50.1"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100013865","name":"Stiftung Charit\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013865","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014690","name":"Ministerium f\u00fcr Kultur und Wissenschaft des Landes Nordrhein-Westfalen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014690","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2020,3]]},"DOI":"10.1016\/j.ejpn.2019.11.002","type":"journal-article","created":{"date-parts":[[2019,11,19]],"date-time":"2019-11-19T21:29:26Z","timestamp":1574198966000},"page":"181-186","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"special_numbering":"C","title":["Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition"],"prefix":"10.1016","volume":"25","author":[{"given":"Annegret","family":"Quade","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9523-2351","authenticated-orcid":false,"given":"Anne","family":"Thiel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3051-1763","authenticated-orcid":false,"given":"Manuel","family":"Holtgrewe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Elbracht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Beule","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8706-137X","authenticated-orcid":false,"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute I.","family":"Scholl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"H\u00e4usler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2019.11.002_bib1","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.ajhg.2010.09.007","article-title":"Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy","volume":"87","author":"Agamy","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2019.11.002_bib2","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1007\/s00247-010-1826-0","article-title":"Pediatric hemiplegic migraine: susceptibility weighted and MR perfusion imaging abnormality","volume":"40","author":"Altinok","year":"2010","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.ejpn.2019.11.002_bib3","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1002\/ana.410400526","article-title":"Acetazolamide responsiveness in familial hemiplegic migraine","volume":"40","author":"Athwal","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ejpn.2019.11.002_bib4","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1212\/WNL.53.1.38","article-title":"A\u00a0new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia","volume":"53","author":"Battistini","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2019.11.002_bib5","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1002\/mds.21277","article-title":"Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development","volume":"22","author":"Blumkin","year":"2007","journal-title":"Mov Disord"},{"key":"10.1016\/j.ejpn.2019.11.002_bib6","volume":"vol. 1","author":"Bradley","year":"2004"},{"key":"10.1016\/j.ejpn.2019.11.002_bib7","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0092-8674(88)90538-7","article-title":"The Drosophila single-minded gene encodes a nuclear protein with sequence similarity to the per gene product","volume":"52","author":"Crews","year":"1988","journal-title":"Cell"},{"key":"10.1016\/j.ejpn.2019.11.002_bib8","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1055\/s-2008-1071499","article-title":"Benign paroxysmal tonic upgaze of childhood-a new syndrome","volume":"21","author":"Deonna","year":"1990","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2019.11.002_bib9","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.jns.2014.04.027","article-title":"Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A","volume":"342","author":"Garcia Segarra","year":"2014","journal-title":"J\u00a0Neurol Sci"},{"key":"10.1016\/j.ejpn.2019.11.002_bib10","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1212\/WNL.0b013e3182a841a3","article-title":"Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans","volume":"81","author":"Hills","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2019.11.002_bib11","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.ejpn.2014.10.005","article-title":"Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine","volume":"19","author":"Kinder","year":"2015","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ejpn.2019.11.002_bib12","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1002\/humu.22617","article-title":"Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families","volume":"35","author":"Makrythanasis","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ejpn.2019.11.002_bib13","doi-asserted-by":"crossref","first-page":"3264","DOI":"10.1101\/gad.12.20.3264","article-title":"Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1","volume":"12","author":"Michaud","year":"1998","journal-title":"Genes Dev"},{"key":"10.1016\/j.ejpn.2019.11.002_bib14","first-page":"353","article-title":"[Paroxysmal tonic upgaze of childhood]","volume":"34","author":"Mochizuki","year":"2002","journal-title":"No Hattatsu"},{"key":"10.1016\/j.ejpn.2019.11.002_bib15","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.braindev.2010.05.006","article-title":"Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine","volume":"33","author":"Omata","year":"2011","journal-title":"Brain Dev"},{"key":"10.1016\/j.ejpn.2019.11.002_bib16","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0092-8674(00)81373-2","article-title":"Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4","volume":"87","author":"Ophoff","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.ejpn.2019.11.002_bib17","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.braindev.2004.02.016","article-title":"Paroxysmal tonic upgaze of childhood-a review","volume":"27","author":"Ouvrier","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.ejpn.2019.11.002_bib18","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1177\/088307388800300305","article-title":"Benign paroxysmal tonic upgaze of childhood","volume":"3","author":"Ouvrier","year":"1988","journal-title":"J\u00a0Child Neurol"},{"key":"10.1016\/j.ejpn.2019.11.002_bib19","doi-asserted-by":"crossref","first-page":"164","DOI":"10.3928\/0191-3913-19990501-18","article-title":"Benign paroxysmal tonic upgaze of a child with positive MRI findings","volume":"36","author":"Rasmussen","year":"1999","journal-title":"J\u00a0Pediatr Ophthalmol Strabismus"},{"key":"10.1016\/j.ejpn.2019.11.002_bib20","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/j.ejpn.2012.04.004","article-title":"Paroxysmal tonic upgaze in normal children: a case series and a review of the literature","volume":"16","author":"Salmina","year":"2012","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ejpn.2019.11.002_bib21","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1177\/0883073808327836","article-title":"Paroxysmal tonic upgaze presenting as a clinical isolated syndrome","volume":"24","author":"Senbil","year":"2009","journal-title":"J\u00a0Child Neurol"},{"key":"10.1016\/j.ejpn.2019.11.002_bib22","first-page":"e108","article-title":"[Paroxysmal upgaze deviation syndrome]","volume":"108","author":"Sousa","year":"2010","journal-title":"Arch Argent Pediatr"},{"key":"10.1016\/j.ejpn.2019.11.002_bib23","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/0304-3940(95)11403-J","article-title":"Light- and electron-microscopic localization of the glutamate receptor channel delta 2 subunit in the mouse Purkinje cell","volume":"188","author":"Takayama","year":"1995","journal-title":"Neurosci Lett"},{"key":"10.1016\/j.ejpn.2019.11.002_bib24","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1111\/dmcn.13033","article-title":"Eye movement disorders are an early manifestation of CACNA1A mutations in children","volume":"58","author":"Tantsis","year":"2016","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.ejpn.2019.11.002_bib25","doi-asserted-by":"crossref","DOI":"10.1177\/2329048X17726168","article-title":"A\u00a0rare syndrome of GRID2 deletion in 2 siblings","volume":"4","author":"Veerapandiyan","year":"2017","journal-title":"Child Neurol Open"},{"key":"10.1016\/j.ejpn.2019.11.002_bib26","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1093\/hmg\/4.2.279","article-title":"Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p","volume":"4","author":"von Brederlow","year":"1995","journal-title":"Hum Mol Genet"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379819304118?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379819304118?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T18:36:21Z","timestamp":1761071781000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379819304118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3]]},"references-count":26,"alternative-id":["S1090379819304118"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2019.11.002","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2020,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2019.11.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}