Data from: EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling

Catrina M. Loucks, Kwangjin Park, Denise S. Walker, Andrea H. McEwan, Tiffany A. Timbers, Evan L. Ardiel, Laura J. Grundy, Chunmei Li, Jacque-Lynne Johnson, Julie Kennedy, Oliver E. Blacque, William R. Schafer, Catharine H. Rankin & Michel R. Leroux
Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and cellular signaling, yet their roles in these neurons are poorly understood. To shed light into their functions, we studied EFHC1, an evolutionarily conserved protein required for motile cilia function and linked to a common form of inherited epilepsy in humans, juvenile myoclonic epilepsy (JME). We demonstrate that C. elegans EFHC1 functions within specialized non-motile mechanosensory cilia, where it regulates...

Registration Year

  • 2019
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  • Dataset
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Affiliations

  • MRC Laboratory of Molecular Biology
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  • Simon Fraser University
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  • University of British Columbia
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  • University College Dublin
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