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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2007-7-26
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pubmed:abstractText |
Familial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP1A2 segregate in the proband with hemiplegic migraine. Both mutations show reduced penetrance in family members of the proband. Cellular survival assays revealed Na,K-ATPase dysfunction for both ATP1A2 mutants, indicating that both mutations are disease causative. This is the first case of compound heterozygosity for any of the known FHM genes.
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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 |
Aug
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pubmed:issn |
1018-4813
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pubmed:author |
pubmed-author:BauerJ-GJG,
pubmed-author:FerrariMichel DMD,
pubmed-author:FrantsRune RRR,
pubmed-author:HaanJoostJ,
pubmed-author:KoenderinkJan BJB,
pubmed-author:RamanAshokA,
pubmed-author:StamAnine HAH,
pubmed-author:TerwindtGisela MGM,
pubmed-author:VanmolkotKaate R JKR,
pubmed-author:de VriesBoukjeB,
pubmed-author:van VarkJudithJ,
pubmed-author:van den BoogerdEelke HEH,
pubmed-author:van den HeuvelJeroen J M WJJ,
pubmed-author:van den MaagdenbergArn M J MAM
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pubmed:issnType |
Print
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
884-8
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:17473835-Adolescent,
pubmed-meshheading:17473835-Adult,
pubmed-meshheading:17473835-Amino Acid Sequence,
pubmed-meshheading:17473835-Child,
pubmed-meshheading:17473835-Female,
pubmed-meshheading:17473835-Heterozygote,
pubmed-meshheading:17473835-Humans,
pubmed-meshheading:17473835-Male,
pubmed-meshheading:17473835-Migraine with Aura,
pubmed-meshheading:17473835-Molecular Sequence Data,
pubmed-meshheading:17473835-Pedigree,
pubmed-meshheading:17473835-Sodium-Potassium-Exchanging ATPase
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pubmed:year |
2007
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pubmed:articleTitle |
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
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pubmed:affiliation |
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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