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Updated: Nov 16, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Neurologic complications of genetic channelopathies
Wayne H Franklin1, Matthew Laubham2
1Department of Pediatrics, Loyola University Chicago, Stritch School of Medicine, Maywood, IL, United States.
Abstract:
This chapter describes what a channelopathy is and how mutations in the genes result in different types of clinical abnormalities. It provides a description of common types of cardiac channelopathies with examples of how there are some areas of overlap with sensory-neuromuscular channelopathies. We describe the cardiac channelopathies of Jervell and Lange-Nielson syndrome, Andersen-Tawil syndrome, Timothy syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, and sinoatrial node dysfunction and deafness. We also discuss sudden unexpected death in epilepsy and how it could relate to some cardiac channelopathies.
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