Migraine and the voltage-gated sodium channel

It is well known that loss of function mutations of the neural Nav1.1 channel lead to severe epilepsy. A few mutations of the same gene have been described that cause instead familial hemiplegic migraine (FHM). In the past we have been characterizing several of these mutations suggesting mostly but not always a gain of function effect. These studies helped to understand how the molecular defects lead to migraine. More recently, we have developed an optimized plasmid encoding Nav1.1 that overcomes severe technical difficulties in plasmid handling. We have employed the plasmid to study two so-far uncharacterized migraine mutations, confirming a gain of function effect for both.

Members:
Raffaella Barbieri
Paola Gavazzo (Principal investigator)
Michael Pusch (Principal investigator)