SUDEP, Funded by the Christopher Donalty and Kyle Coggins Memorial Award

Cardiac Mechanisms of SUDEP in Dravet Syndrome

Jack Parent, MD - Lore Isom, PhD
University of Michigan

Dravet Syndrome (DS) is a severe childhood epilepsy usually caused by mutations in a sodium channel gene, SCN1A, that is critical for nerve cell function. Sudden Unexpected Death in Epilepsy (SUDEP) is a major concern and risk for individuals with DS. Because SCN1A is also active in heart cells, Drs. Parent and Isom hypothesize that SCN1A mutations increase SUDEP risk by causing heart rhythm disturbances. To directly study heart cells from individuals with DS, they are using the induced pluripotent stem cell (iPSC) method in which skin cells from an individual with DS are reprogrammed to become stem cells, and then the cells are turned into heart cells. The study of heart cells derived from individuals with DS should provide critical clues about SUDEP mechanisms, and will offer a useful model system to test new therapies.


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