Eye movement disorders are an early manifestation of CACNA1A mutations in children

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• 作者：Esther M Tantsis ; Deepak Gill ; Lyn Griffiths ; Sachin Gupta ; John Lawson ; Neven Maksemous ; Robert Ouvrier ; Florence Riant ; Robert Smith ; Christopher Troedson ; Richard Webster and Manoj P Menezes
• 刊名：Developmental Medicine & Child Neurology
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：58
• 期：6
• 页码：639-644
• 全文大小：201K
• ISSN：1469-8749

文摘

The alpha-1 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 (SCA6) and episodic ataxia type 2 (EA2) in adults. There are reports of children with CACAN1A 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 CACNA1A mutation who presented to a tertiary children's hospital.