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Epileptic encephalopathies (EE) are genetic or environmentally-caused conditions that cause “catastrophic” damage or degradation to the sensory, cognitive, and behavioral centers of the brain. Whole-exome sequencing identified de novo heterozygous missense mutations within the DNM1 gene of five pediatric patients with epileptic encephalopathies. DNM1 encodes for the dynamin-1 protein which is involved in endocytosis and synaptic recycling, and it is a member of dynamin GTPase. The zebrafish, an alternative model system for drug discovery, was utilized to develop a novel model for dynamin-1 epileptic encephalopathy through a small molecule inhibitor. The model system mimicked human epilepsy caused by DNM1 mutations and identified potential biochemical pathways involved in the production of this phenotype. The use of microinjections of mutated DNM1 verified phenotypes and was utilized to determine safe and effective antiepileptic drugs (AEDs) for treatment of this specific EE. This zebrafish dynamin-1 epileptic encephalopathy model has potential uses for drug discovery and investigation of this rare childhood disorder.
ContributorsMills, Gabrielle Corley (Author) / Kodibagkar, Vikram (Thesis director) / Rangasamy, Sampath (Committee member) / School of Human Evolution & Social Change (Contributor) / Harrington Bioengineering Program (Contributor) / Barrett, The Honors College (Contributor)
Created2019-05
Description
Worldwide there are over 50 million people suffering from epilepsy, eighty percent (80%) of whom live in low to middle income countries. Of that eighty percent (80%) of people suffering from this disease, seventy-five percent (75%) do not receive treatment. The current design and treatment methods of epilepsy have many limitations in these specific countries. These limitations include: lack of education about the disease leading to stigmas surrounding it, inability to afford treatment options, and the absence of healthcare practitioners who specialize in the treatment of neurological illnesses. Additionally, the healthcare system worldwide is a large contributor to climate change calling for a need to implement sustainable practices in both the treatment of patients and creation of healthcare centers. This thesis has been developed in order to theorize the design of a clinic that can be beneficial to epileptics in developing countries and to the environment. Through the methodology of case studies and research on existing strategies implemented in specific hospitals, we were able to focus on three main aspects that should be taken into consideration for an epilepsy clinic: the ambient environment, sustainability, and target demographic - developing countries. The idea ambient environment, it was found, plays a large role in the healing process through reduction of stress on patients. From there the most important features specific to epilepsy were able to be considered and synthesized for the best possible theoretical design of a clinic focused on the treatment and diagnosis of epilepsy in a developing country.
ContributorsPenrose, Nicole Ellen Youzhi (Co-author) / Gonzalez, Bianca (Co-author) / Vallerand, Olivier (Thesis director) / Brunner, Lori (Committee member) / School of Human Evolution & Social Change (Contributor) / School of Life Sciences (Contributor) / Barrett, The Honors College (Contributor)
Created2019-05