rdf:type |
|
lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2003-5-20
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pubmed:abstractText |
Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. Missense mutations in the chromosome 19 CACNA1A calcium channel gene have been found in approximately half of the families. The T666M mutation, replacing a threonine by a methionine at residue number 666, is the most frequent mutation, reported in 14 independent FHM families; other mutations have so far been described in only 1 or 2 families each. The clinical features of T666M families have been reported, but the course is unknown.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
AIM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
May
|
pubmed:issn |
0003-9942
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pubmed:author |
pubmed-author:FerraroM JMJ,
pubmed-author:FrantsR RRR,
pubmed-author:GiffinN JNJ,
pubmed-author:HabaTT,
pubmed-author:KornE JEJ,
pubmed-author:LennoxG GGG,
pubmed-author:PazderaLL,
pubmed-author:SchnittgerCC,
pubmed-author:TerwindtG MGM,
pubmed-author:Van den MaagdenbergA M J MAM,
pubmed-author:VermeulenF L M JFL
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pubmed:issnType |
Print
|
pubmed:volume |
60
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
684-8
|
pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12756131-Adult,
pubmed-meshheading:12756131-Calcium Channels,
pubmed-meshheading:12756131-Czech Republic,
pubmed-meshheading:12756131-Family Health,
pubmed-meshheading:12756131-Female,
pubmed-meshheading:12756131-Germany,
pubmed-meshheading:12756131-Great Britain,
pubmed-meshheading:12756131-Haplotypes,
pubmed-meshheading:12756131-Hemiplegia,
pubmed-meshheading:12756131-Humans,
pubmed-meshheading:12756131-Male,
pubmed-meshheading:12756131-Migraine Disorders,
pubmed-meshheading:12756131-Pedigree,
pubmed-meshheading:12756131-Phenotype,
pubmed-meshheading:12756131-Point Mutation,
pubmed-meshheading:12756131-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:12756131-United States
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pubmed:year |
2003
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pubmed:articleTitle |
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine.
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pubmed:affiliation |
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|