No evidence that SCN9A variants are associated with epilepsy

Voltage gated sodium channels play a vital part in neuronal signalling pathways throughout the nervous system. The main brain expressed sodium channels are SCN1A, SCN2A, SCN3A and SCN8A. Pathogenic variants in these genes lead to well-defined epilepsy syndromes including early onset developmental and epileptic encephalopathies as well as milder phenotypes [1]. In contrast SCN9A, SCN10A and SCN11A are primarily expressed in dorsal root ganglion and sympathetic ganglion neurons of the peripheral nervous system playing an important role in peripheral pain-signalling pathways [2].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research