An SCN9A channelopathy causes congenital inability to experience pain

doi:doi:10.1038/nature05413

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An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas, Gemma Thornton, Emma Roberts, Kelly Springell, Gulshan Karbani, Hussain Jafri, Jovaria Mannan, Yasmin Raashid, Lihadh Al-Gazali, Henan Hamamy, Enza Maria Valente, Shaun Gorman, Richard Williams, Duncan P. McHale, John N. Wood, Fiona M. Gribble and C. Geoffrey Woods

Nature 444, 894-898(14 December 2006)

doi:10.1038/nature05413

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Supplementary Information

This file contains Supplementary Methods discussing cloning methodology used to generate the constructs for this study, Supplementary Figures 1- 2 and Supplementary Tables 1-2. Supplementary Figure 1 shows kinetic properties of whole cell wild-type NaV1.7+NaV beta 1+NaV beta 2 currents in HEK293 cells. Supplementary Figure 2 shows alignment of the amino acid sequences of the corresponding common splice variants for the human (NP_002968) and mouse Nav1.7 (XP_904764) proteins using the LALIGN program (: = identical amino acid; . = similar amino acid). Supplementary Table 1 shows markers used to search for common haplotype blocks between the three families.Supplementary Table 2 shows primers used to amplify and sequence the coding exons and splice sites of SCN9A