| Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. | |
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MedLine Citation:
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PMID: 12539047 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Headache attacks and autonomic dysfunctions characterize migraine, a very common, disabling disorder with a prevalence of 12% in the general population of Western countries. About 20% of individuals affected with migraine experience aura, a visual or sensory-motor neurological dysfunction that usually precedes or accompanies the headache. Although the mode of transmission is controversial, population-based and twin studies have implicated genetic factors, especially in migraine with aura. Familial hemiplegic migraine is a hereditary form of migraine characterized by aura and some hemiparesis. Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481). Functional data indicate that the putative pathogenetic mechanism is triggered by a loss of function of a single allele of ATP1A2. This is the first report associating mutations of Na+K+ pump subunits to genetic diseases. |
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Authors:
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Maurizio De Fusco; Roberto Marconi; Laura Silvestri; Luigia Atorino; Luca Rampoldi; Letterio Morgante; Andrea Ballabio; Paolo Aridon; Giorgio Casari |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't Date: 2003-01-21 |
Journal Detail:
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Title: Nature genetics Volume: 33 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 2003 Feb |
Date Detail:
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Created Date: 2003-01-31 Completed Date: 2003-03-04 Revised Date: 2012-02-22 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 192-6 Citation Subset: IM |
Affiliation:
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Human Molecular Genetics Unit, Dibit-San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy. |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/141500; 602481; RefSeq/NM_001678 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Base Sequence COS Cells Calcium Channels / genetics Case-Control Studies Cell Survival / drug effects Cercopithecus aethiops Chromatography, High Pressure Liquid Chromosomes, Human, Pair 1 / genetics Drug Resistance Enzyme Inhibitors / pharmacology Female Haploidy HeLa Cells Humans Male Migraine with Aura / enzymology*, genetics* Molecular Sequence Data Mutagenesis, Site-Directed Mutation* Ouabain / pharmacology Pedigree Peptide Fragments Sodium-Potassium-Exchanging ATPase / genetics*, metabolism Transfection |
| Grant Support | |
ID/Acronym/Agency:
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F.1//Telethon; TGM06S01//Telethon |
| Chemical | |
Reg. No./Substance:
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0/Calcium Channels; 0/Enzyme Inhibitors; 0/Peptide Fragments; 630-60-4/Ouabain; EC 3.6.1.-/ATP1A2 protein, human; EC 3.6.3.9/Sodium-Potassium-Exchanging ATPase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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