Genomics and Modification of Pain: A peripheral component identified using iPSCs with the S241T mutation

Study ID Alternative Stable ID Type
phs001724 Parent-Offspring Trios

Study Description

We have capitalized on inherited erythromelalgia (IEM) as a well-characterized genetic model of chronic pain, and studied IEM patients carrying Nav1.7 mutations which affect channel activation and often produce hyperexcitability of DRG neurons. Whole exome sequencing was used to discover multiple gene variants that might contribute to neuronal excitability and that might serve as modifiers of sensory neuron firing, and identified the Kv7.2 channel as a contributor to differences in pain profiles between individuals.

Archive Link Archive Accession
dbGaP phs001724

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