NeuroscienceeLifePeer-reviewed
Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy
Evelien Van Hoeymissen, Katharina Held, Ana Cristina Nogueira Freitas…·Joris Vriens
This study investigates two TRPM3 mutations linked to DEE, showing they cause gain of function through altered channel gating and increased sensitivity to neurosteroids and heat.
58 citations