Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

ABSTRACT: The aims of our study were to use whole genome sequencing in a cross-sectional cohort of patients to identify new variants in genes implicated in neuropathic pain, to determine the prevalence of known pathogenic variants and to understand the relationship between pathogenic variants and clinical presentation. Patients with extreme neuropathic pain phenotypes (both sensory loss and gain) were recruited from secondary care clinics in the UK and underwent whole genome sequencing as part of the National Institute for Health and Care Research Bioresource Rare Diseases project. A multidisciplinary team assessed the pathogenicity of rare variants in genes previously known to cause neuropathic pain disorders and exploratory analysis of research candidate genes was completed. Association testing fo

SUBMITTER: Themistocleous AC 

PROVIDER: S-EPMC9991512 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature