Genetic study of Italian families affected by small fibre neuropathy identified variants in predisposing pain phenotype

Abstract

Peripheral Neuropathy (PN) affects 2.4% of people and almost 50% of general population is known to have pain-related symptoms. Genetic studies in painful PN (PPN) revealed that Voltage Gated Sodium Channels (VGSCs) genes are involved in pain amplification. Here we aimed to broaden the genetic aspect of PPN by using whole exome sequencing (WES).