Biophysical and molecular studies of an epilepsy related single-point mutant in the S4-S5 linker of the kv7.3 subunit of M-channel

Abstract

Benign familial neonatal epilepsy (BFNE) is a form of childhood epilepsy, occurring along the first days of life, and can be prolonged for months and in some cases even for years. Many forms of BFNE are associated to mutations in a type of slowly opening and closing voltage-dependent potassium channel called the “M-channel”. The M-channel is a hetero-tetramer containing two different members of the Kv7 family: Kv7.2/Kv7.3 or Kv7.3/Kv7.5. It plays an important role in setting the membrane resting potential in sympathetic neurons, but it is also expressed widely in the brain.