Andreas C Themistocleous, Georgios Baskozos, Iulia Blesneac, Maddalena Comini, Karyn Megy, Sam Chong, Sri V V Deevi, Lionel Ginsberg, David Gosal, Robert D M Hadden, Rita Horvath, Mohamed Mahdi-Rogers, Adnan Manzur, Rutendo Mapeta, Andrew Marshall, Emma Matthews, Mark I McCarthy, Mary M Reilly, Tara Renton, Andrew S C Rice, Tom A Vale, Natalie van Zuydam, Suellen M Walker, Christopher Geoffrey Woods, David L H Bennett
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...
2023: Brain communications