KCNA2 epileptic encephalopathy is a seizure disorder caused by a variation on the KCNA2 potassium channel. The variation in the KCNA2 gene causes the potassium channel to function improperly. Depending on the variation, the KCNA2 channel may be hyperexcitable (gain of function), electrically silenced (loss of function), or have a combination of both excitability (gain) and silence (loss) of function. All three types cause various types of seizures and other neurological challenges.
Last updated October 2024