Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features-Reference-Cited by-同舟云学术

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

Published:2021-01-14 Issue: Volume: Page:
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Ko Pin-Yi¹,Glass Ian A.²³⁴,Crandall Suzanne⁵,Weiss Avery⁶,Dorschner Michael O.⁴,Kelly John P.⁶,Phillips James O.⁷,Lopez Jonathan¹

Affiliation:

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

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

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

6. Department of Ophthalmology, University of Washington, Seattle, Washington, United States

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

Abstract

AbstractWe 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.

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1721686.pdf

Reference24 articles.

1. C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity;H B Kordasiewicz;Hum Mol Genet,2006

2. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome;X Jiang;Epilepsia,2019

3. Ophthalmic manifestations of inherited neurodegenerative disorders;H M Kersten;Nat Rev Neurol,2014

4. Crouzon Syndrome: relationship of eye movements to pattern strabismus;A H Weiss;Invest Ophthalmol Vis Sci,2015

5. Optical coherence tomography in optic nerve hypoplasia: correlation with optic disc diameter, thickness, and visual function;J P Kelly;J Neuroophthalmol,2018

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