Article
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
International journal of molecular sciences - 30 Jun 2024
Misra Kaalindi, Ślęczkowska Milena, Santoro Silvia, Gerrits Monique M, Mascia Elisabetta, Marchi Margherita, Salvi Erika, Smeets Hubert J M, Hoeijmakers Janneke G J, Martinelli Boneschi Filippo Giovanni, Filippi Massimo, Lauria Pinter Giuseppe, Faber Catharina G, Esposito Federica
Abstract excerpt
Small-Fiber Neuropathy (SFN) is a disorder of the peripheral nervous system, characterised by neuropathic pain; approximately 11% of cases are linked to variants in Voltage-Gated Sodium Channels (VGSCs). This study aims to broaden the genetic knowledge on painful SFN by applying Whole-Exome Sequencing (WES) in Early-Onset (EO) cases. A total of 88 patients from Italy (n = 52) and the Netherlands (n = 36), with a...
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