Mechanistic investigation in a novel mouse model of early-onset SCN1A-related disorders

Hill grant

Sophie Hill, PhD – Children’s Hosptial of Philadelphia
Mechanistic investigation in a novel mouse model of early-onset SCN1A-related disorders
Postdoctoral Fellowship – $75,000, 1 year

Grant Summary:

Mutations in the SCN1A gene most commonly cause reduced functioning of the Nav1.1 protein and lead to Dravet syndrome, a debilitating epilepsy disorder. However, a new class of SCN1A mutations cause excessive activity of Nav1.1. Individuals with these mutations exhibit an even more severe form of epilepsy as well as developmental delay and intellectual disability. We have generated the first mouse expressing a patient-derived mutation associated with this severe early-onset condition. In this fellowship, we will evaluate the novel mouse for neurological abnormalities, including seizures and movement disorders. Additionally, we will investigate the electrical properties of neurons in mutant brain. Our overall goal is to understand the mechanism by which both reduced and excessive activity of Nav1.1 can cause epilepsy, and to identify treatments for both disorders.

About the Investigator:

Dr. Sophie Hill is a postdoctoral fellow in Dr. Ethan Goldberg’s lab at the Children’s Hospital of Philadelphia. In 2018, she earned her Bachelor’s at the University of Michigan with a double-major in Chemistry and Biochemistry. Dr. Hill remained at the University of Michigan to pursue a PhD in Neuroscience with Dr. Miriam Meisler, which she completed in 2023. Her dissertation examined the voltage-gated sodium channel gene Scn8a as a target for anti-epileptic therapy. As a postdoctoral fellow in the Goldberg lab, she is interested in gain-of-function mutations of SCN1A that cause epilepsy. In the future, Dr. Hill hopes to investigate mechanisms of epilepsy with the goal of developing novel therapies.

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