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SCN9A Mutations Define Primary Erythermalgia as a Neuropathic Disorder of Voltage Gated Sodium Channels  Joost P.H. Drenth, Rene H.M. te Morsche, Gerard.

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Presentation on theme: "SCN9A Mutations Define Primary Erythermalgia as a Neuropathic Disorder of Voltage Gated Sodium Channels  Joost P.H. Drenth, Rene H.M. te Morsche, Gerard."— Presentation transcript:

1 SCN9A Mutations Define Primary Erythermalgia as a Neuropathic Disorder of Voltage Gated Sodium Channels  Joost P.H. Drenth, Rene H.M. te Morsche, Gerard Guillet, Alain Taieb, R. Lee Kirby, Jan B.M.J. Jansen  Journal of Investigative Dermatology  Volume 124, Issue 6, Pages (June 2005) DOI: /j X x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Mutations in SCN9A in primary erythermalgia. Cartoon represents the genomic sequence of SCN9A with and vertical boxes indicate the coding exons. Seven SCN9A mutations in primary erythermalgia patients have been discovered so far and are depicted. The asterix represents the mutation that has been found in another study. (Yang et al, 2004) Sequence electrospherograms showing sequences for each mutation are discovered in this study. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Red feet in primary erythermalgia. Phenotypical apperance of primary erythermalgia in the sporadic case with the R1150W mutation. Note the redness and slightly swollen appearance of feet. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Pedigree structures of families with primary erythermalgia. Pedigree of four families (2–5) with autosomal dominant inherited primary erythermalgia. Females and indicated by circles and males by squares. Blackened figures denote affected individuals, and figures with slashes denote deceased individuals. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions


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