Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference7 articles.
1. Benign paroxysmal tonic upgaze of childhood;Ouvrier;J Child Neurol,1988
2. Identification of two de novo variants of CACNA1A in pediatric Chinese patients with paroxysmal ponic upgaze;Zhang;Front Pediatr,2021
3. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene;Chemin;Brain,2018
4. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia;Morino;Mol Brain,2015
5. Episodic vestibulocerebellar ataxia associated with a CACNA1G missense variant;Gazulla;Case Rep Neurol,2021
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