The CACNA1E gene codes for a subunit of the voltage-gated calcium channel, which plays an important role in cells of the nervous system, the heart muscle and other tissues. This calcium channel is crucial for the regulation of calcium ion currents, which are necessary for the transmission and processing of excitation in the cells. Mutations in the CACNA1E gene can lead to a rare genetic disorder associated with neurological and muscular symptoms. These include frequent epileptic seizures, movement disorders such as ataxia and muscle weakness as well as delayed mental and motor development. In some cases, behavioral abnormalities such as autism spectrum disorders also occur. The disease belongs to the group of channelopathies in which defects in ion channels disrupt normal cell function. Treatment focuses primarily on controlling the symptoms, especially the seizures, and is usually carried out with special medication.