Mutations in the TBC/lysin motif domain/catalytic (TLDc) domain of TBC1D24 cause Rolandic-type focal motor epilepsy; the TBC1D24/Sky TLDc domain is a reactive oxygen species (ROS) sensor mediating synaptic vesicle trafficking rates that can result in movement disorders when dysfunctional.
Why this matters
These findings highlight a potential therapeutic strategy for TBC1D24-associated diseases, in which previously described lipid-altering strategies that target TBC dysfunction are combined with antioxidants which target TLDc mutant hypersensitivity to ROS.
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