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Clinical and genetic characterization of CACNA1A ‐related disease by Amy R. Lipman; Xiao Fan; Yufeng Shen; Wendy K. Chung is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Clinical and genetic characterization of CACNA1A ‐related disease about?

## Abstract Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. With increasing use of clinical genetic testing, associations have expanded to include developmental delay, epilepsy, paroxysmal dystonia, and neuropsychiatric disorders. We report 47 individuals with 33 unique likely pathogenic or pathogenic CACNA1A variants. A machine learning method, funNCion, was used to predict loss‐of‐function (LoF)/gain‐of‐function (GoF) impact of genetic variants, and a heuristic severity score was designed to analyze genotype/phenotype correlations. Commonly reported phenotypes include developmental delay/intellectual disability (96%), hemiplegic migraines (36%), episodic ataxia type 2 (32%), epilepsy (55%), autism spectrum disorder (23%), and paroxysmal tonic upward gaze (36%). Severity score was significantly higher for predicted GoF variants, variants in the S5/S6 helices, and the recurrent p.Val1392Met variant. Seizures/status epilepticus were correlated with GoF and were more frequent in those with the p.Val1392Met variant. Our findings demonstrate a breadth of disease severity in CACNA1A‐rel

Who reads Clinical and genetic characterization of CACNA1A ‐related disease?

Author

Amy R. Lipman; Xiao Fan; Yufeng Shen; Wendy K. Chung

Publisher

Wiley

Published

2022

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)