A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome

Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological pain states. We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physi...

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Detalles Bibliográficos
Autores principales: Kremeyer, Barbara, Lopera, Francisco, Cox, James J., Momin, Aliakmal, Rugiero, Francois, Marsh, Steve, Woods, C. Geoffrey, Jones, Nicholas G., Paterson, Kathryn J., Fricker, Florence R., Villegas, Andrés, Acosta, Natalia, Pineda-Trujillo, Nicolás G., Ramírez, Juan Diego, Zea, Julián, Burley, Mari-Wyn, Bedoya, Gabriel, Bennett, David L.H., Wood, John N., Ruiz-Linares, Andrés
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2010
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769261/
https://www.ncbi.nlm.nih.gov/pubmed/20547126
http://dx.doi.org/10.1016/j.neuron.2010.04.030

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