Sporadic onset of erythermalgia: A gain-of-function mutation in Na v1.7

Annals of Neurology

Volumn 59, Issue 3, 2006, Pages 553-558

  Han, Chongyang ^a   Rush, Anthony M ^b,c   Dib Hajj, Sulayman D ^b,c   Li, Song ^d   Xu, Zhe ^e   Wang, Yun ^d   Tyrrell, Lynda ^b,c   Wang, Xiaoliang ^a   Yang, Yong ^b,d   Waxman, Stephen G ^b,c,d  

^a INSTITUTE OF MATERIA MEDICA   (China)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^d PEKING UNIVERSITY FIRST HOSPITAL   (China)

^e CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BURNING SENSATION; CASE REPORT; CHINESE; DEPOLARIZATION; ERYTHROMELALGIA; EXERCISE; FOUNDER EFFECT; GAIN OF FUNCTION MUTATION; GENE MUTATION; HUMAN; HYPERPOLARIZATION; LIMB PAIN; MALE; MOSAICISM; NERVE EXCITABILITY; PATCH CLAMP; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; THERMAL STIMULATION; WHOLE CELL;

ADOLESCENT; AMINO ACID SEQUENCE; CELL LINE; CHINA; DNA MUTATIONAL ANALYSIS; DOSE-RESPONSE RELATIONSHIP, RADIATION; ELECTRIC STIMULATION; ERYTHROMELALGIA; EXONS; FAMILY HEALTH; HUMANS; LEUCINE; MALE; MEMBRANE POTENTIALS; MODELS, MOLECULAR; MUTATION; PATCH-CLAMP TECHNIQUES; PHENYLALANINE; SODIUM CHANNELS; TRANSFECTION;

EID: 33644826050     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20776     Document Type: Article

References (19)

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