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

Journal of Neuroscience

Volumn 35, Issue 20, 2015, Pages 7674-7681

  Emery, Edward C ^a   Habib, Abdella M ^b   Cox, James J ^b   Nicholas, Adeline K ^c   Gribble, Fiona M ^a   Geoffrey Woods, C ^c   Reimann, Frank ^a  

^a MEDICAL RESEARCH COUNCIL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Congenital insensitivity to pain; Inherited erythromelalgia; Nav1.7; Pain; Paroxysmal extreme pain disorder; SCN9A

Indexed keywords

SODIUM CHANNEL NAV1.7; SCN9A PROTEIN, HUMAN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL CULTURE; CHILD; CONGENITAL ANALGESIA; ELECTROPHYSIOLOGY; ERYTHROMELALGIA; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSFECTION; GENOTYPE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PAIN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOGENIC PAIN; SCHOOL CHILD; ABNORMALITIES; CHANNEL GATING; CHEMISTRY; GENETICS; HEK293 CELL LINE; METABOLISM; PEDIGREE; PROTEIN TERTIARY STRUCTURE; RECTUM;

CHILD; ERYTHROMELALGIA; FEMALE; HEK293 CELLS; HUMANS; ION CHANNEL GATING; MALE; MUTATION, MISSENSE; NAV1.7 VOLTAGE-GATED SODIUM CHANNEL; PAIN; PAIN INSENSITIVITY, CONGENITAL; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECTUM;

EID: 84929692746     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.3935-14.2015     Document Type: Article

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