Channelopathy:
Several developmental diseases are caused by channelopathies, or malfunctions of our ion channels. They include Timothy syndrome and Andersen-Tawil syndrome, rare diseases that cause neurological, heart, and skull and facial defects. Even fetal alcohol syndrome, which can develop if a woman drinks during her pregnancy, can produce similar defects because alcohol blocks many of the same ion channels.
Noted in “Grow with the flow,” Jason Bittel, NewScientist (7 January 2017, paywall). An ion channel:
Ion channels are pore-forming membrane proteins whose functions include establishing a resting membrane potential, shaping action potentials and other electrical signals by gating the flow of ions across the cell membrane, controlling the flow of ions across secretory and epithelial cells, and regulating cell volume.
