Gain-of-Function mutations in SCN11A cause familial episodic pain

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 957-966

  Zhang, Xiang Yang ^a   Wen, Jingmin ^a   Yang, Wei ^b   Wang, Cheng ^a   Gao, Luna ^a   Zheng, Liang Hong ^c   Wang, Tao ^d   Ran, Kaikai ^e   Li, Yulei ^a   Li, Xiangyang ^a   Xu, Ming ^a   Luo, Junyu ^f   Feng, Shenglei ^a   Ma, Xixiang ^a   Ma, Hongying ^a   Chai, Zuying ^c   Zhou, Zhuan ^c   Yao, Jing ^a,g   Zhang, Xue ^b   Liu, Jing Yu ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b Department of Pharmacology   (China)

^c PEKING UNIVERSITY   (China)

^d UNION HOSPITAL   (China)

^e XINXIANG MEDICAL UNIVERSITY   (China)

^f WUHAN INSTITUTE OF TECHNOLOGY   (China)

^g WUHAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ANALGESIC AGENT; ANTIINFLAMMATORY AGENT; GENOMIC DNA; SODIUM CHANNEL NAV1.7; SODIUM CHANNEL NAV1.8; SODIUM CHANNEL NAV1.9; TRANSIENT RECEPTOR POTENTIAL CHANNEL A1;

ACTION POTENTIAL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM CURRENT; CHINESE; CHROMOSOME 3P; CHRONIC PAIN; CLINICAL FEATURE; DNA SEQUENCE; ELECTRIC ACTIVITY; EXOME; FAMILIAL EPISODIC PAIN; FAMILY; GAIN OF FUNCTION MUTATION; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; HAPLOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; LINKAGE ANALYSIS; MEMBRANE STEADY POTENTIAL; MICROSATELLITE MARKER; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; NONHUMAN; PAIN; PHENOTYPE; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN FUNCTION; RECURRENT DISEASE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SITE DIRECTED MUTAGENESIS; SODIUM CURRENT; SPINAL GANGLION;

EID: 84890177829     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.09.016     Document Type: Article

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