Article
Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.
Brain : a journal of neurology - 1 Sept 2012
Han Chongyang, Hoeijmakers Janneke G J, Liu Shujun, Gerrits Monique M, te Morsche Rene H M, Lauria Giuseppe, Dib-Hajj Sulayman D, Drenth Joost P H, Faber Catharina G, Merkies Ingemar S J, Waxman Stephen G
Abstract excerpt
Patients with small fibre neuropathy typically manifest pain in distal extremities and severe autonomic dysfunction. However, occasionally patients present with minimal autonomic symptoms. The basis for this phenotypic difference is not understood. Sodium channel Na(v)1.7, encoded by the SCN9A gene, is preferentially expressed in the peripheral nervous system within sensory dorsal root ganglion and sympathetic...
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