Investigating Functional Consequences of SCN2A Muations in Epilepsy

Sodium channels are brain proteins that are involved in certain forms of epilepsy. We will investigate the functional effects of a specific mutation in one sodium channel gene, SCN2A. Our goal is to understand how this mutation alters function of the sodium channel, determine if any available antiepileptic drugs can correct the function of the mutation. These studies will improve our understanding of the molecular basis for epilepsy associated with mutant sodium channel genes.