2015

SUDEP

Patient-Specific Induced Pluripotent Stem Cell Cardiac Myocytes As Predictors Of SUDEP Risk

Lori Isom, PhD - Jack Parent, PhD
University of Michigan
 

Mutations in ion channel genes cause Dravet Syndrome (DS) and several other forms of severe childhood epilepsy. Many of these ion channels, which are critical for electrically excitable tissues, are present in the heart in addition to the brain. We propose that heart rhythm may be altered in genetic epilepsy and that heart abnormalities may contribute to SUDEP. We were the first to demonstrate altered cardiac excitability in mouse models of DS caused by SCN1A and SCN1B mutations. Our new results suggest that DS patient-derived heart cells generated from skin cells using the induced pluripotent stem cell (iPSC) method have altered beating rates and ionic currents and may be useful in predicting SUDEP risk. We will test the hypothesis that genetic epilepsy patients who are at greater risk of SUDEP will exhibit a higher beating rate and higher levels of sodium current in their iPSC-cardiac heart cells compared to people who do not have epilepsy. If so, then our work may lead to a diagnostic test for SUDEP risk.

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