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Neuropediatrics 2021; 52(03): 186-191
DOI: 10.1055/s-0040-1721686
Original Article

Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features

Pin-Yi Ko
1   Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington, United States
,
Ian A. Glass
2   Center for Integrative Brain Research, Seattle, Washington, United States
3   Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States
4   Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, United States
,
Suzanne Crandall
5   Department of Neurology, Saint Luke's Hospital of Kansas City, Kansas City, Missouri, United States
,
Avery Weiss
6   Department of Ophthalmology, University of Washington, Seattle, Washington, United States
,
Michael O. Dorschner
4   Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, United States
,
John P. Kelly
6   Department of Ophthalmology, University of Washington, Seattle, Washington, United States
,
James O. Phillips
7   Department of Otolaryngology-HNS, University of Washington, Seattle, Washington, United States
,
Jonathan Lopez
1   Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington, United States
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Abstract

We describe two novel missense variants in CACNA1A segregating in a family with variable severity of ataxia/oculomotor dysfunction, neurobehavioral impairments, and epilepsy. The most severe outcome occurred in a compound heterozygous proband, which could represent variable expression of the paternal allele or biallelic modulation of calcium channel function. Acetazolamide and lamotrigine were effective for seizure control.

Keywords

epilepsy - ataxia - oculomotor - neurobehavioral - CACNA1A


Publication History

Received: 15 May 2020

Accepted: 10 September 2020

Article published online:
14 January 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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