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Difference between revisions of "IMNM"

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<h4> Specific Aims and Tasks </h4>
 
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Utilize iPSC-derived cardiac myocytes and autonomic neurons as well as mouse models to determine whether heart rhythm disturbances are a cause of SUDEP in Dravet Syndrome, a severe childhood epilepsy with a high risk of SUDEP
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<ul> <li> Focus on SCN1A and SCN1B mutations and investigation of their effect on cardiac and autonomic  neuron excitability</ul>
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<ul> To understand the effects of DS-linked SCN1A mutations on cardiac excitability using DS patient iPSC-derived CMs and DS mice. 1A. Our recent work describing DS patient-derived iPSC neurons (10) was the first iPSC model of a predominant epilepsy syndrome, and we have now generated the first iPSC model of CMs from epilepsy patients. We will determine if DS patient iPSC CMs have altered excitability using whole-cell voltage- and current-clamp techniques to compare INa density and  
 
<ul> To understand the effects of DS-linked SCN1A mutations on cardiac excitability using DS patient iPSC-derived CMs and DS mice. 1A. Our recent work describing DS patient-derived iPSC neurons (10) was the first iPSC model of a predominant epilepsy syndrome, and we have now generated the first iPSC model of CMs from epilepsy patients. We will determine if DS patient iPSC CMs have altered excitability using whole-cell voltage- and current-clamp techniques to compare INa density and  
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developing patient specific therapies to prevent SUDEP.
 
developing patient specific therapies to prevent SUDEP.
 
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    <h4> Principal Investigators </h4>
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  <h4> Principal Investigators </h4>
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              <li> <a href="investigators#jp" > Jack Parent, M.D.    </a> </li>
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              <li> <a href="investigators#lli" > Lori L. Isom, Ph.D.    </a> </li>
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       <h4> Citations </h4>
 
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Revision as of 11:17, 13 November 2014


iPSC and Mouse Neurocardiac Models (NS090364)


Specific Aims and Tasks

Utilize iPSC-derived cardiac myocytes and autonomic neurons as well as mouse models to determine whether heart rhythm disturbances are a cause of SUDEP in Dravet Syndrome, a severe childhood epilepsy with a high risk of SUDEP
  • Focus on SCN1A and SCN1B mutations and investigation of their effect on cardiac and autonomic neuron excitability

Principal Investigators



Citations



Protocols and Manuals



Publication Links



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