Scientists have identified a mutation in the KCNB1 gene after mapping a DNA of a girl of 10 years old with Epileptic encephalopathy. Epileptic encephalopathy is a severe, rare and complex form of epilepsy that becomes evident in an early childhood and can lead to early death. This research finding has opened new treatment options for the young patient. Currently, the likely course of the disease was grim and appeared hopeless when the patients were experiencing convulsive seizures.
The KCNB1 gene is responsible for encoding the Kv2.1 voltage-gated potassium channel. This channel affects cells communication with one another, by regulating the flow of potassium ions through neurons. This channel is also responsible in regulating potassium flow in the kidney, which maintains the potassium balance in the blood and excretion.
A research team was led by a group of scientists at the Scripps Translational Science Institute (STSI)The study was published in the October edition of medical journal Annals of Neurology.