WP5360 - KCNQ2-related epilepsies - Homo sapiens

KCNQ gene mutations are a common source for genetically caused epilepsies. KCNQ genes code for Kv7 subunits, which are required for Kv7 channels in the brain. These channels, also known as the M channels, are required for an outward potassium flow, known as the M current. Mutations in KCNQ genes and genes associated with Kv7 channel function can result in the impairment of this potassium flow. This leads to a constant state of depolarization in the neuron cells, which leads to increased excitabilty and a constant firing of action potentials, resulting in types of epilepsy.