Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

Brain

Volumn 128, Issue 8, 2005, Pages 1847-1854

  Dib Hajj, S D ^a,b   Rush, A M ^a,b   Cummins, T R ^c   Hisama, F M ^a   Novella, S ^a   Tyrrell, L ^a,b   Marshall, L ^a   Waxman, S G ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Channel; Channelopathy; Erythromelalgia; Mutation; Pain; Sodium

Indexed keywords

ION CHANNEL; SODIUM; SODIUM CHANNEL; DNA; SCN9A PROTEIN, HUMAN;

ACTION POTENTIAL; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL MEMBRANE DEPOLARIZATION; CONTROLLED STUDY; ERYTHROMELALGIA; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC CODE; GENETIC LINKAGE; HUMAN; HUMAN CELL; HYPERPOLARIZATION; MALE; MOUSE; MUTATOR GENE; NOCICEPTION; NONHUMAN; NUCLEOTIDE SEQUENCE; PAIN RECEPTOR; PAIN THRESHOLD; PRIORITY JOURNAL; SENSORY NERVE; SKIN BURNING SENSATION; SODIUM CURRENT; SPINAL GANGLION; STEADY STATE; ADOLESCENT; ADULT; AGED; CHILD; FAMILY HEALTH; GENETICS; METHODOLOGY; MIDDLE AGED; MUTATION; NOCICEPTIVE RECEPTOR; PATCH CLAMP; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; PRESCHOOL CHILD; SENSORY NERVE CELL;

ACTION POTENTIALS; ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA; ERYTHROMELALGIA; FAMILY HEALTH; FEMALE; GANGLIA, SPINAL; HUMANS; MALE; MIDDLE AGED; MUTATION; NEURONS, AFFERENT; NOCICEPTORS; PATCH-CLAMP TECHNIQUES; PEDIGREE; SODIUM CHANNELS;

EID: 23444443202     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh514     Document Type: Article

References (25)

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