Differential behaviour of Kv7.2 (KCNQ2) potassium channel mutants in neonatal epilepsy and peripheral nerve hyperexcitability

Background: Benign familial neonatal convulsions (BFNC) is caused by mutations in the voltage-gated potassium channels Kv7.2 and Kv7.3, being expressed in CNS and PNS. BFNC is characterized by frequent unprovoked seizures, typically beginning within the first days of life and spontaneously disappearing after several weeks to months. Peripheral nerve hyperexcitability (PNH, neuromyotonia, myokymia) is characterized by muscle overactivity due to spontaneous discharges of lower motor neurons. Antibodies against or mutations within different types of voltage-gated potassium channels can cause PNH. PNH could only be…