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Medicine and Health Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

Neurosciences

2016

Metabolism

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Full-Text Articles in Medicine and Health Sciences

The Effects Of Synthetic And Dietary Therapeutics On Learning, Memory, Motor Coordination, And Seizure In An Angelman Syndrome Mouse Model, Stephanie Lynn Ciarlone Nov 2016

The Effects Of Synthetic And Dietary Therapeutics On Learning, Memory, Motor Coordination, And Seizure In An Angelman Syndrome Mouse Model, Stephanie Lynn Ciarlone

USF Tampa Graduate Theses and Dissertations

Angelman syndrome (AS) is a rare genetic and neurological disorder presenting with severe developmental delay, ataxia, epilepsy, and lack of speech. AS is associated with a neuron-specific loss of function of the maternal UBE3A allele, a gene encoding an E3 ubiquitin ligase. Currently, no cure exists for this disorder; however, recent research using an AS mouse model suggests that pharmacological intervention is plausible, and can alleviate some of the detrimental phenotypes reported in AS patients.

Although there is no curative treatment for AS, seizure medication and behavioral therapies are most commonly prescribed in order to minimize symptoms. However, these options …