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Paroxysmal extreme pain disorder M1627K mutation in human Na(v)1.7 renders DRG neurons hyperexcitable

BACKGROUND: Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant painful neuropathy with many, but not all, cases linked to gain-of-function mutations in SCN9A which encodes voltage-gated sodium channel Na(v)1.7. Severe pain episodes and skin flushing start in infancy and are induced by...

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Detalles Bibliográficos
Autores principales: Dib-Hajj, Sulayman D, Estacion, Mark, Jarecki, Brian W, Tyrrell, Lynda, Fischer, Tanya Z, Lawden, Mark, Cummins, Theodore R, Waxman, Stephen G
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2556659/
https://www.ncbi.nlm.nih.gov/pubmed/18803825
http://dx.doi.org/10.1186/1744-8069-4-37