Channelopathy: a novel mutation in the SCN9A gene causes insensitivity to pain and autonomic dysregulation

Br J Dermatol. 2014 Nov;171(5):1268-70. doi: 10.1111/bjd.13096. Epub 2014 Oct 19.

Authors

F Bartholomew¹, J Lazar, A Marqueling, C Lee-Messer, S Jaradeh, J M C Teng

Affiliation

¹ Department of Dermatology, Stanford University School of Medicine, 700 Welch Road, Suite 301; MC 5896, Palo Alto, CA, 94304, U.S.A.

PMID: 24813348
DOI: 10.1111/bjd.13096

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Autonomic Nervous System Diseases / genetics*
Channelopathies / genetics*
Codon, Nonsense / genetics*
Female
Homozygote
Humans
Hypohidrosis / genetics
Infant
NAV1.7 Voltage-Gated Sodium Channel / genetics*
Pain Insensitivity, Congenital / genetics*
Recurrence
Self Mutilation / genetics
Skin Ulcer / genetics

Substances

Codon, Nonsense
NAV1.7 Voltage-Gated Sodium Channel
SCN9A protein, human