Inherited erythromelalgia due to mutations in SCN9A: Natural history, clinical phenotype and somatosensory profile

Brain

Volumn 139, Issue 4, 2016, Pages 1052-1065

  McDonnell, Aoibhinn ^a   Schulman, Betsy ^b   Ali, Zahid ^a   Dib Hajj, Sulayman D ^b   Brock, Fiona ^c   Cobain, Sonia ^c   Mainka, Tina ^d,e   Vollert, Jan ^d,f   Tarabar, Sanela ^g   Waxman, Stephen G ^b  

^a PFIZER GLOBAL RESEARCH AND DEVELOPMENT   (United Kingdom)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Quanticate Ltd   (United Kingdom)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g PFIZER INC   (United States)

Author keywords

clinical phenotyping; inherited erythromelalgia; Nav1.7; quantitative sensory testing; small fibre neuropathy

Indexed keywords

ACETYLSALICYLIC ACID; CARBAMAZEPINE; CODEINE; GABAPENTIN; HYDROCODONE; IBUPROFEN; MEXILETINE; MORPHINE; NAPROXEN; PARACETAMOL; PARACETAMOL PLUS TRAMADOL; PREGABALIN; SODIUM CHANNEL NAV1.7; SCN9A PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ANALGESIA; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE DURATION; ERYTHROMELALGIA; FEMALE; FOOT PAIN; GAIN OF FUNCTION MUTATION; HAND PAIN; HEAT PAIN THRESHOLD; HOSPITAL ANXIETY AND DEPRESSION SCALE; HUMAN; INHERITED ERYTHROMELALGIA; MALE; ORTHOSTATIC HYPOTENSION; PAIN SEVERITY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMETRY; SELF REPORT; SINGLE NUCLEOTIDE POLYMORPHISM; SMELLING; SOCIAL PSYCHOLOGY; SOMATOSENSORY SYSTEM; STATISTICAL SIGNIFICANCE; GENETICS; MIDDLE AGED; MUTATION; PAIN; PAIN MEASUREMENT; PATHOPHYSIOLOGY; PROCEDURES; QUESTIONNAIRE; SOMATOSENSORY EVOKED POTENTIAL; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ERYTHROMELALGIA; EVOKED POTENTIALS, SOMATOSENSORY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NAV1.7 VOLTAGE-GATED SODIUM CHANNEL; PAIN; PAIN MEASUREMENT; PHENOTYPE; SURVEYS AND QUESTIONNAIRES; YOUNG ADULT;

EID: 84964543261     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aww007     Document Type: Article

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