Several types of cryptogenetic epilepsies have been linked to altered function of membrane ion channels, secondary to genetic mutations. However, the etiopathogenesis of most idiopathic epilepsies, either inheritable or sporadic, remains obscure. Several experimental data in the literature indicate that HCN channels play a fundamental role in the control of physiological excitability of neurons, and that alteration of their properties can lead to the aberrant firing typical of epilepsy.
The main purpose of this project is to identify forms of idiopathic epilepsy which are associated with mutations in HCN ion channels (isoforms 1, 2 and 4) leading to functional defective behavior.
The aim is therefore to identify a cause-effect link between new HCN channel mutations and the pathological expression of inheritable forms of epilepsy.
Our ultimate goal is to gain a better knowledge of the pathogenetic mechanisms underlying specific forms of epilepsy that can be linked to defects in the functional properties of HCN channels.
Knowledge of specific causative mechanisms will help management of the disease and future development of drugs acting on identified ion channel functions as therapeutic tools