Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

• DOI: 10.3390/ijms232214095
• Publication Date: 2022-11-16T07:24:53Z
• Authors: Milena Ślęczkowska; Rowida Almomani; Margherita Marchi; Erika Salvi; Bianca T A de Greef; Maurice Sopacua; Janneke G J Hoeij...; Patrick Lindsey; Stephen G Waxman; Giuseppe Lauria; Catharina G Faber; Hubert J M Smeets; Monique M Gerrits
• Keywords: idiopathic small fiber neuropathy; ion channel; MIPs-NGS; neuropathic pain; peripheral neuropathy; Potassium Channels; Peripheral neuropathy; Neuralgia/genetics; Small Fiber Neuropathy; Ion Channels/genetics; Anoctamins; Neuropathic pain; Article; Ion Channels; 3. Good health; Cohort Studies; 03 medical and health sciences; 0302 clinical medicine; Diabetic Neuropathies/genetics; Small Fiber Neuropathy/genetics; Diabetic Neuropathies; MIPs-NGS; Potassium Channels/genetics; Humans; Neuralgia; Ion channel; Idiopathic small fiber neuropathy

Neuropathic pain is a characteristic feature of small fiber neuropathy (SFN), which in 18% the cases caused by genetic variants voltage-gated sodium ion channels. In this study, we assessed role fifteen other channels neuropathic pain. Patients with SFN (n = 414) were analyzed for ANO1, ANO3, HCN1, KCNA2, KCNA4, KCNK18, KCNN1, KCNQ3, KCNQ5, KCNS1, TRPA1, TRPM8, TRPV1, TRPV3 and TRPV4 single-molecule molecular inversion probes-next-generation sequencing. These patients did not have SCN3A, SCN7A-SCN11A SCN1B-SCN4B. twenty (20/414, 4.8%), potentially pathogenic heterozygous variant was identified an ion-channel gene (ICG). Variants present seven genes, two (0.5%) one (0.2%) (1.7%) three (0.7%) TRPV1 TRPV3. TRP genes most frequent 15, 3.6%), partly high mean maximal scores VAS 9.65 ± 0.7 4). ICG reported more severe compared to without such (VAS 9.36 0.72 vs. 7.47 2.37). This cohort study SFN, complementing previous findings diabetic neuropathy. data show that are central different etiologies provides promising candidates future research.