title: Congenital insensitivity to pain: a case report and review of the literature.
abstract: Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot's joints.
authors.affiliation: The Neuro-Genetics Institute, 501 Elmwood Avenue, Sharon Hill, PA 19079, USA.
authors.forename: Leema Reddy
authors.identifier: 0000-0001-6761-5999
authors.initials: LR
authors.lastname: Peddareddygari
authors.affiliation: The Neuro-Genetics Institute, 501 Elmwood Avenue, Sharon Hill, PA 19079, USA.
authors.forename: Kinsi
authors.initials: K
authors.lastname: Oberoi
authors.affiliation: Neuroscience Institute, Saint Francis Medical Center, School of Health and Medical Sciences, Seton Hall University, Saint Francis Medical Center, 601 Hamilton Avenue, Trenton, NJ 08629, USA.
authors.forename: Raji P
authors.initials: RP
authors.lastname: Grewal