Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.

Emery, Edward C; Habib, Abdella M; Cox, James J; Nicholas, Adeline K; Gribble, Fiona M; Woods, C Geoffrey; Reimann, Frank

Emery, Edward C; Habib, Abdella M; Cox, James J; Nicholas, Adeline K; Gribble, Fiona M; Woods, C Geoffrey; Reimann, Frank.

Affiliation

Emery EC; University of Cambridge, Wellcome Trust/MRC Institute for Metabolic Science, Addenbrooke's Hospital, Cambridge, CB2 0QQ, United Kingdom.
Habib AM; University College London, Molecular Nociception Group, London, WC1E 6BT, United Kingdom, and.
Cox JJ; University College London, Molecular Nociception Group, London, WC1E 6BT, United Kingdom, and.
Nicholas AK; University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge, CB2 0XY, United Kingdom.
Gribble FM; University of Cambridge, Wellcome Trust/MRC Institute for Metabolic Science, Addenbrooke's Hospital, Cambridge, CB2 0QQ, United Kingdom.
Woods CG; University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge, CB2 0XY, United Kingdom fr222@cam.ac.uk cw347@cam.ac.uk.
Reimann F; University of Cambridge, Wellcome Trust/MRC Institute for Metabolic Science, Addenbrooke's Hospital, Cambridge, CB2 0QQ, United Kingdom, fr222@cam.ac.uk cw347@cam.ac.uk.

J Neurosci ; 35(20): 7674-81, 2015 May 20.

Article in En | MEDLINE | ID: mdl-25995458

Subject(s)

Erythromelalgia/genetics; Ion Channel Gating; Mutation, Missense; NAV1.7 Voltage-Gated Sodium Channel/metabolism; Pain Insensitivity, Congenital/genetics; Pain/genetics; Rectum/abnormalities; Child; Erythromelalgia/metabolism; Female; HEK293 Cells; Humans; Male; NAV1.7 Voltage-Gated Sodium Channel/chemistry; NAV1.7 Voltage-Gated Sodium Channel/genetics; Pain/metabolism; Pain Insensitivity, Congenital/metabolism; Pedigree; Phenotype; Protein Structure, Tertiary; Rectum/metabolism

Key words

Nav1.7; SCN9A; congenital insensitivity to pain; inherited erythromelalgia; pain; paroxysmal extreme pain disorder

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pain / Rectum / Pain Insensitivity, Congenital / Ion Channel Gating / Mutation, Missense / Erythromelalgia / NAV1.7 Voltage-Gated Sodium Channel Limits: Child / Female / Humans / Male Language: En Journal: J Neurosci Year: 2015 Type: Article Affiliation country: United kingdom

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