A research team led by scientists at the Scripps Translational Science Institute (STSI) has used whole genome sequencing to identify a new genetic cause of a severe, rare and complex form of epilepsy that becomes evident in early childhood and can lead to early death.





The researchers found a mutation in the KCNB1 gene after mapping the DNA of a 10-year-old girl who suffers from epileptic encephalopathy. The findings were reported in the October edition of the peer-reviewed medical journal Annals of Neurology.





The KCNB1 gene encodes the Kv2.1 voltage-gated potassium channel, which regulates the flow of potassium ions through neurons, affecting how the cells communicate with one another. The voltage-gated potassium channel also regulates potassium flow in the kidney, which affects potassium excretion and fluid balance.





The link between the KCNB1 mutation and epileptic encephalopathy has opened new treatment options for the young patient, said Robert Bjork, MD, her physician and a member of the Scripps Memorial Hospital La Jolla staff.





Earlier this year, “her prognosis was grim and appeared hopeless when she was experiencing many convulsive seizures, could barely eat or drink, and had ‘drop attacks’ where she would abruptly drop to the floor up to 25 times a day,” he said.





Given continued close medical monitoring, an expanded medical treatment team, a uniquely designed home-school program and avoidance of dehydration, Dr. Bjork is optimistic that she can be kept out of harm’s way and her status will improve over time.