This website provides information on patients with mutations in the SCN9A gene, including clinical data, molecular data, management, and research options.
The syndrome caused by mutations in the SCN9A gene is a multisystem disorder characterized by recessive non/dysfunctional mutations – the focus of this entry: Being unable to feel pain from birth and having no sense of smell from birth
Dominant activating mutations – this is NOT the focus of this entry: Progressively more severe episodic pains, starting peripherally.
All individuals with proven mutation in the SCN9A gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SCN9A gene.
C Geoffrey Woods, MB ChB, Department of Clinical Genetics, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UK, email@example.com