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

Pin-Yi Ko; Ian A. Glass; Suzanne Crandall; Avery Weiss; Michael O. Dorschner; John P. Kelly; James O. Phillips; Jonathan Lopez

doi:10.1055/s-0040-1721686

Neuropediatrics, Table of Contents

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

Authors

Pin-Yi Ko

¹Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington, United States
Ian A. Glass

²Center for Integrative Brain Research, Seattle, Washington, United States

³Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States

⁴Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, United States
Suzanne Crandall

⁵Department of Neurology, Saint Luke's Hospital of Kansas City, Kansas City, Missouri, United States
Avery Weiss

⁶Department of Ophthalmology, University of Washington, Seattle, Washington, United States
Michael O. Dorschner

⁴Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, United States
John P. Kelly

⁶Department of Ophthalmology, University of Washington, Seattle, Washington, United States
James O. Phillips

⁷Department of Otolaryngology-HNS, University of Washington, Seattle, Washington, United States
Jonathan Lopez

¹Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington, United States

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

Full Text

References

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