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Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.
Cregg R, Laguda B, Werdehausen R, Cox JJ, Linley JE, Ramirez JD, Bodi I, Markiewicz M, Howell KJ, Chen YC, Agnew K, Houlden H, Lunn MP, Bennett DL, Wood JN, Kinali M. Cregg R, et al. Among authors: wood jn. Neuromolecular Med. 2013 Jun;15(2):265-78. doi: 10.1007/s12017-012-8216-8. Epub 2013 Jan 6. Neuromolecular Med. 2013. PMID: 23292638 Free PMC article.
An SCN9A channelopathy causes congenital inability to experience pain.
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG. Cox JJ, et al. Among authors: wood jn. Nature. 2006 Dec 14;444(7121):894-8. doi: 10.1038/nature05413. Nature. 2006. PMID: 17167479 Free PMC article.
398 results