{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T13:16:32Z","timestamp":1782134192268,"version":"3.54.5"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,1,27]],"date-time":"2016-01-27T00:00:00Z","timestamp":1453852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>The alpha\u20101 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may manifest with hemiplegic migraine, spinocerebellar ataxia type 6 (<jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content>6) and episodic ataxia type 2 (<jats:styled-content style=\"fixed-case\">EA<\/jats:styled-content>2) in adults. There are reports of children with <jats:italic><jats:styled-content style=\"fixed-case\">CACAN<\/jats:styled-content>1A<\/jats:italic> mutations presenting with paroxysmal tonic upgaze, abnormal saccades and congenital nystagmus as well as severe forms of hemiplegic migraine. The aim of this study was to review the clinical presentation and subsequent course of all children with a <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> mutation who presented to a tertiary children's hospital.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We reviewed retrospectively nine children with a proven <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> mutation who presented to the Children's Hospital at Westmead between 2005\u20132015. The initial and subsequent clinical presentation, radiological features and molecular genetic profile of each child was reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nine children presented to out institute over a 10\u00a0year period; six were female and three male. The median age of presentation was 1.2\u00a0years. Eye movement disorders were the presenting feature in eight children. Three of these children later presented with severe hemiplegic migraine episodes often requiring <jats:styled-content style=\"fixed-case\">ICU<\/jats:styled-content> care. Affected children also had developmental delay and developed classical hemiplegic migraine, episodic ataxia and seizures. Calcium channel blockers were used with some efficacy in preventing severe <jats:styled-content style=\"fixed-case\">HM<\/jats:styled-content> episodes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Eye movement disorders are an early manifestation of <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> mutations in children. Improved recognition of the <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> phenotype in childhood is important for early diagnosis, counselling and appropriate emergency management. There is some early evidence that calcium channel blockers may be an effective prophylactic agent for the severe hemiplegic migraine episodes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.13033","type":"journal-article","created":{"date-parts":[[2016,1,27]],"date-time":"2016-01-27T06:10:48Z","timestamp":1453875048000},"page":"639-644","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":72,"title":["Eye movement disorders are an early manifestation of <i><scp>CACNA<\/scp>1A<\/i> mutations in children"],"prefix":"10.1111","volume":"58","author":[{"given":"Esther M","family":"Tantsis","sequence":"first","affiliation":[{"name":"TY Nelson Department of Neurology and Neurosurgery The Children's Hospital at Westmead Westmead NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Gill","sequence":"additional","affiliation":[{"name":"TY Nelson Department of Neurology and Neurosurgery The Children's 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