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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2011-1-18
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pubmed:abstractText |
Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP). These phenotypes are characterized by episodic extreme localized pain with cutaneous autonomic signs. So far, no other phenotypes have been associated with mutation in the SCN9A gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1878-5883
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2010 Elsevier B.V. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:day |
15
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pubmed:volume |
301
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
90-2
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pubmed:meshHeading |
pubmed-meshheading:21094958-Aged,
pubmed-meshheading:21094958-Amino Acid Sequence,
pubmed-meshheading:21094958-Amino Acid Substitution,
pubmed-meshheading:21094958-Chronic Disease,
pubmed-meshheading:21094958-Conserved Sequence,
pubmed-meshheading:21094958-DNA Mutational Analysis,
pubmed-meshheading:21094958-Exons,
pubmed-meshheading:21094958-Female,
pubmed-meshheading:21094958-Heterozygote,
pubmed-meshheading:21094958-Humans,
pubmed-meshheading:21094958-Jews,
pubmed-meshheading:21094958-Models, Molecular,
pubmed-meshheading:21094958-Molecular Sequence Data,
pubmed-meshheading:21094958-Mutant Proteins,
pubmed-meshheading:21094958-Mutation, Missense,
pubmed-meshheading:21094958-Neuralgia,
pubmed-meshheading:21094958-Phenotype,
pubmed-meshheading:21094958-Point Mutation,
pubmed-meshheading:21094958-Sequence Alignment,
pubmed-meshheading:21094958-Sequence Homology, Amino Acid,
pubmed-meshheading:21094958-Sodium Channels
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pubmed:year |
2011
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pubmed:articleTitle |
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.
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pubmed:affiliation |
Department of Neurology, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. dabbyr@netvision.net.il
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pubmed:publicationType |
Journal Article,
Case Reports
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