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Altered Fast Synaptic Transmission In An In Vitro Mouse Model Of Epileptic Encephalopathy, Matthew Mccabe

Graduate College Dissertations and Theses

Epileptic encephalopathies (EEs) are severe seizure disorders that occur in infants and young children, characterized by developmental delay, and cognitive decline. Recent efforts have identified a wide variety of genetic variants that cause EEs. Among these, variants in the DNM1 gene have emerged as definitive causes of EEs, including Infantile Spasms and Lennox-Gastaut syndrome. A mouse model of Dnm1-associated EE, known as “Fitful” (Dnm1Ftfl), recapitulates key features of the disease, including spontaneous seizures, developmental delay, and neuronal degeneration. Previous work showed that Dnm1 is a key regulator of synaptic vesicle (SV) endocytosis and synaptic transmission, and suggested that inhibitory neurotransmission …