The role of ATP1A3 gene in epilepsy: We need to know more.

The gene, which encodes the Na/K-ATPase α3 catalytic subunit, plays a crucial role in both physiological and pathological conditions in the brain, and mutations in this gene have been associated with a wide variety of neurological diseases by impacting the whole infant development stages. Cumulative clinical evidence suggests that some severe epileptic syndromes have been linked to mutations in , among which inactivating mutation of has been intriguingly found to be a candidate pathogenesis for complex partial and generalized seizures, proposing regulators as putative targets for the rational design of antiepileptic therapies. In this review, we introduced the physiological function of and summarized the findings about in epileptic conditions from both clinical and laboratory aspects at first. Then, some possible mechanisms of how mutations result in epilepsy are provided. We think this review timely introduces the potential contribution of mutations in both the genesis and progression of epilepsy. Taken that both the detailed mechanisms and therapeutic significance of for epilepsy are not yet fully illustrated, we think that both in-depth mechanisms investigations and systematic intervention experiments targeting are needed, and by doing so, perhaps a new light can be shed on treating -associated epilepsy.