SCN9A gene encodes voltage-gated sodium channel NaV1.7 and is associated with a group of heterogeneous phenotypes. Heterozygous gain-of-function SCN9A mutations have been linked to inherited erythromelalgia (IEM), paroxysmal extreme pain disorder (PEPD), and small-fiber neuropathy (SFN), while recessive loss-of-function SCN9A mutations have been linked to congenital insensitivity to pain (CIP). Recently, a heterozygous SCN9A mutation was found to be responsible for generalized epilepsy with febrile seizures plus (GEFS+) in a large pedigree.1 SCN9A variants have also been suggested as a genetic modifier in SCN1A mutation-associated GEFS+ and a possible susceptibility gene for Dravet syndrome [1,2].

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