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A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.

Abstract:

Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological pain states. We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress. Linkage and haplotype analysis mapped this phenotype to a 25 cM region on chromosome 8q12-8q13. Candidate gene sequencing identified a point mutation (N855S) in the S4 transmembrane seg...

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Authors


Kremeyer, B More by this author
Rugiero, F More by this author
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Journal:
Neuron
Volume:
66
Issue:
5
Pages:
671-680
Publication date:
2010-06-05
DOI:
EISSN:
1097-4199
ISSN:
0896-6273
URN:
uuid:bbc53273-eca2-42c7-a14b-0cf8ddee3fbe
Source identifiers:
365769
Local pid:
pubs:365769

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