OPEN Journal of neurology, neurosurgery, and psychiatry | 7 Nov 2012
CJ Klein, Y Wu, DH Kilfoyle, P Sandroni, MD Davis, RH Gavrilova, PA Low and PJ Dyck
Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically well-characterised cohort of patients with CIP and erythromelalgia.
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