LAUSR

ABSTRACT Introduction There are approximately 70 million people with epilepsy and about 30% of patients are not satisfactorily treated. A link between gene mutations and epilepsy is well documented. A number of pathological variants of KCNT1 gene (encoding the weakly voltage-dependent sodium-activated potassium channel – KNa 1.1) mutations has been found. For instance, epilepsy of infancy with migrating focal seizures, autosomal sleep-related hypermotor epilepsy or Ohtahara syndrome have been associated with KCNT1 gene mutations. Areas covered Several methods for studies on KNa 1.1 channels have been reviewed – patch clamp analysis, Förster resonance energy transfer spectroscopy and whole-exome sequencing. The authors also review available drugs for the management of KCNT1 epilepsies. Expert Opinion The current methods enable deeper insights into electrophysiology of KNa 1.1 channels or its functioning in different activation states. It is also possible to identify a given KCNT1 mutation. Quinidine and cannabidiol show variable efficacy as add-on to baseline antiepileptic drugs so more effective treatments are required. A combined approach with the methods shown above, in silico methods and the animal model of KCNT1 epilepsies seems likely to create personalized treatment of patients with KCNT1 gene mutations.