A Comparison of Epilepsy-Inducing Mutations Across SCN1A, SCN2A, AND SCN8A
AuthorMcCourt, Abigail Marie
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PublisherThe University of Arizona.
RightsCopyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.
AbstractSCN1A, SCN2A, and SCN8A are three sodium ion channels found in nerve cells. These channels allow the passage of sodium ions into the cell for proper functioning of actions potentials. This paper considers mutations within these channels that result in epilepsy as well as ataxia, dystonia, and other neurological disorders. Specifically, comparisons are made between these channels to look for patterns, similarities, and differences in these epilepsy-inducing mutations. For instance, the machine-learning tool PolyPhen-2 uses a naïve Bayes approach to assign mutations a pathogenicity score as the posterior probability that the mutation is pathogenic. Trends in these scores are compared across each of the three channels. These patterns are sought in hopes of finding meaning in these mutations that can aid in the development of better treatment options for those affected.
Degree ProgramHonors College