KCNT1-related epilepsy is caused by mutations in the KCNT1 gene, which helps to regulate the flow of potassium ions across neuronal membranes in the brain. KCNT1 mutations cause the potassium to become overactive, sending abnormal electrical signals in the brain. This can cause a range of different epileptic seizures, and those associated with KCNT1-related epilepsy can be frequent and difficult to control.
Seizures in infancy, when not accompanied by a fever, could be the first indication of KCNT1-related epilepsy. These may begin in the first year of life, or later in childhood.
Empatica collaborated with Biogen in a natural history study of pediatric participants with epilepsy, with the goal to characterize seizures in patients with KCNT1-related epilepsy via a fully decentralized trial. Empatica’s EmbracePlus was worn by a subgroup of the total participants for a period of up to six months to continuously monitor their physiological signals and seizure activity. Using EmbracePlus enabled researchers to overcome the obstacle of smaller wrist sizes, due to the potential for growth restriction in the patient population. Using its custom seizure detection algorithm, Empatica provided individual seizure reports for all participants.
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