Novel mutations mapping to the fourth sodium channel domain of nav1.7 result in variable clinical manifestations of primary erythromelalgia

NeuroMolecular Medicine

Volumn 15, Issue 2, 2013, Pages 265-278

  Cregg, Roman ^a,b   Laguda, Bisola ^c   Werdehausen, Robert ^a,d   Cox, James J ^a   Linley, John E ^a   Ramirez, Juan D ^e,j   Bodi, Istvan ^f   Markiewicz, Michael ^c   Howell, Kevin J ^b   Chen, Ya Chun ^g   Agnew, Karen ^c   Houlden, Henry ^h,i   Lunn, Michael P ^h,i   Bennett, David L H ^j   Wood, John N ^a   Kinali, Maria ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

^d HEINRICH HEINE UNIVERSITY   (Germany)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f KING S COLLEGE HOSPITAL   (United Kingdom)

^g IMPERIAL COLLEGE LONDON   (United Kingdom)

^h NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

^j UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

Erythromelalgia; Gain of function mutations; Nav1.7; Neuropathic pain; Voltage gated sodium channels

Indexed keywords

ALANINE; AMITRIPTYLINE; ARGININE; CAPSAICIN; CARBAMAZEPINE; DULOXETINE; GABAPENTIN; GENOMIC DNA; GLYCINE; LIDOCAINE; MEXILETINE; SODIUM CHANNEL NAV1.7; TRAMADOL; TRYPTOPHAN;

ADULT; AGED; ALLODYNIA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE EXACERBATION; DNA SEQUENCE; DRUG DOSE INCREASE; ELECTROPHYSIOLOGY; ERYTHEMA; ERYTHROMELALGIA; EVENING DOSAGE; FEMALE; FOOT PAIN; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAND PAIN; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPOLARIZATION; MALE; MISSENSE MUTATION; NEUROPATHIC PAIN; NUCLEOTIDE SEQUENCE; ONSET AGE; PAIN ASSESSMENT; PARESTHESIA; PRIORITY JOURNAL; SCHOOL CHILD; SCN9A GENE; SHOULDER PAIN;

ACTION POTENTIALS; AGE OF ONSET; AMINO ACID SEQUENCE; ANALGESICS; CHILD, PRESCHOOL; ERYTHROMELALGIA; FEMALE; HEK293 CELLS; HUMANS; ION TRANSPORT; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; NAV1.7 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; PHENOTYPE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT FUSION PROTEINS; SENSATION DISORDERS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SODIUM; TRANSFECTION;

EID: 84877764335     PISSN: 15351084     EISSN: 15591174     Source Type: Journal    
DOI: 10.1007/s12017-012-8216-8     Document Type: Article

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