The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability

Eitemau Tebyg

• Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy
  gan: Van Hoeymissen, Evelien, et al.
  Cyhoeddwyd: (2020)
• De novo substitutions of TRPM3 cause intellectual disability and epilepsy
  gan: Dyment, David A., et al.
  Cyhoeddwyd: (2019)
• Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms
  gan: Zhao, Siyuan, et al.
  Cyhoeddwyd: (2020)
• Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
  gan: Lehman, Anna, et al.
  Cyhoeddwyd: (2017)
• De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
  gan: Blanchard, Maxime G, et al.
  Cyhoeddwyd: (2015)