{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:23:40Z","timestamp":1792787020726,"version":"4.5.0"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T00:00:00Z","timestamp":1529539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Clinical Research Hospital Program from the French Ministry of Health","award":["2010-14-12"],"award-info":[{"award-number":["2010-14-12"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>Benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) are characterized by transient and recurrent episodes of neurological manifestations. The purpose of this study was to analyse the clinical relationships between these syndromes, associated comorbidities, and genetic bases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>In this cross\u2010sectional study, clinical data of patients with BPT, BPV, or BTU were collected with a focus on developmental achievements, learning abilities, and rehabilitation. Neuropsychological assessment and genetic testing were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Fifty patients (median age at inclusion 6y) were enrolled. Psychomotor delay, abnormal neurological examination, and low or borderline IQ were found in 19%, 32%, and 26% of the patients respectively. Cognitive dysfunction was present in 27% of the patients.\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      gene mutation was identified in eight families, and\n                      <jats:italic>KCNA1<\/jats:italic>\n                      and\n                      <jats:italic>FGF14<\/jats:italic>\n                      mutation in one family respectively. The identification of a\n                      <jats:italic>CACNA1A<\/jats:italic>\n                      mutation was significantly associated with BTU (\n                      <jats:italic>p<\/jats:italic>\n                      =0.03) and with cognitive dysfunction (\n                      <jats:italic>p<\/jats:italic>\n                      =0.01). Patients with BPV were less likely to have cognitive dysfunction.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Children with BPT, BPV, or BTU are at high risk of impaired psychomotor and cognitive development. These syndromes should not be regarded as benign and should be considered as part of the spectrum of a neurodevelopmental disorder.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>What this paper adds OK<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Patients with benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) have an increased risk of psychomotor delay.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>These patients also have an increased risk of abnormal neurological examination and cognitive dysfunction.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>\n                            Gene mutations, especially in\n                            <jats:italic>CACNA1A<\/jats:italic>\n                            , were identified in 21% of the families.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>BPT, BTU, and BPV should not be regarded as benign.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>BPT, BTU, and BPV should be considered as part of the spectrum of a neurodevelopmental disorder.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.13935","type":"journal-article","created":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T04:48:06Z","timestamp":1529556486000},"page":"1256-1263","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders"],"prefix":"10.1111","volume":"60","author":[{"given":"V\u00e9ronique","family":"Humbertclaude","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine Psychologique Enfants et Adolescents CHU Saint Eloi Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Krams","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie CHU Gui de Chauliac Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Nogue","sequence":"additional","affiliation":[{"name":"Centre d'Investigation Clinique CHU Montpellier Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Nagot","sequence":"additional","affiliation":[{"name":"Centre d'Investigation Clinique CHU Montpellier Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Annequin","sequence":"additional","affiliation":[{"name":"Centre de la Migraine de l'Enfant H\u00f4pital Trousseau, AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Tourniaire","sequence":"additional","affiliation":[{"name":"Centre de la Migraine de l'Enfant H\u00f4pital Trousseau, AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Tournier\u2010Lasserve","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Groupe Hospitalier Lariboisi\u00e8re\u2010Fernand Widal AP\u2010HP Paris France"},{"name":"INSERM, UMR\u2010S740 Universit\u00e9 Paris 7 Denis Diderot Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Riant","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Groupe Hospitalier Lariboisi\u00e8re\u2010Fernand Widal AP\u2010HP Paris France"},{"name":"INSERM, UMR\u2010S740 Universit\u00e9 Paris 7 Denis Diderot Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8180-4857","authenticated-orcid":false,"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie CHU Gui de Chauliac Montpellier France"},{"name":"INSERM U 1051 Institut des Neurosciences de Montpellier Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Episodic Syndromes Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,6,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/head.12624"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0333102413485658"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030460013"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/87.1.141"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(00)00099-1"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307388800300305"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-2982.2008.01645.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0982-8"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808322338"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13033"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2014.12.018"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.12.011"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816636226"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.228"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.003"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.03.003"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22944"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-015-0551-3"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2016.01.003"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.02.016"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1995.tb12014.x"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430416"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.10.006"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2010.03.006"},{"key":"e_1_2_8_26_1","first-page":"1099","article-title":"Benign paroxysmal vertigo of childhood","volume":"130","author":"Dunn DW","year":"1976","journal-title":"Am J Dis Child"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2012.04.004"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1526-4610.2010.01717.x"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1177\/0333102410382797"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.01.006"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.11.005"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1526-4610.1999.3901033.x"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fdmcn.13935","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.13935","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T06:49:27Z","timestamp":1692254967000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.13935"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,21]]},"references-count":31,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["10.1111\/dmcn.13935"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.13935","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,21]]},"assertion":[{"value":"2018-05-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}