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Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Pediatric neurology - 1 Feb 2023

Riquet Audrey, Cleuziou Pierre, Floret Valentine, Quesque Francois, Defoort Sabine, Smol Thomas

Abstract excerpt

BACKGROUND: Paroxysmal tonic upgaze (PTU), defined as an involuntary upward movement of the eyes, has been considered as a benign phenomenon but may also be associated with ataxia and developmental delay. To date, CACNA1G mutations have been reported in autosomal dominant spinocerebellar ataxia designated SCA42 and in early encephalopathies with cerebellar atrophy but never in periodic childhood manifestations of...

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PMID: 36508879
DOI: 10.1016/j.pediatrneurol.2022.11.003

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