BK channels of five different subunit combinations underlie the de novo KCNMA1 G375R channelopathy.

Abstract excerpt

The molecular basis of a severe developmental and neurological disorder associated with a de novo G375R variant of the tetrameric BK channel is unknown. Here, we address this question by recording from single BK channels expressed to mimic a G375R mutation heterozygous with a WT allele. Five different types of functional BK channels were expressed: 3% were consistent with WT, 12% with homotetrameric mutant, and...

Topics

• Humans
• Large-Conductance Calcium-Activated Potassium Channels
• Large-Conductance Calcium-Activated Potassium Channel alpha Subunits
• Channelopathies
• Mutation
• Phenotype