Topic: NaV 1.2

Patients with mutations in the PRRT2 gene (proline-rich transmembrane protein 2) are characterized by a large spectrum of neurological disorders, including mainly benign epilepsy and paroxysmal kinesigenic dyskinesia. PRRT2 is a neuronal protein implicated in the modulation of the voltage-gated sodium channel, in particular NaV 1.2 and 1.6. Indeed, a dysregulation of this gene could lead to hyperexcitability due to the loss of the Na+ channel modulation. To better understand the mechanism, we generated glutamatergic induced neurons (glutamatergic iNeurons) from PRRT2 induced pluripotent stem c