ArticleNeurogenetics2004
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.
Article in Neurogenetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 64 citations in OpenAlex.
- Hemiplegic migraine: genetics and pathophysiology.The Journal of clinical investigation · 2026Review
- Astrocytes in Atp1a2-deficient heterozygous mice exhibit hyperactivity after induction of cortical spreading depression.FEBS open bio · 2020Article
- Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.Neuron · 2018Article
- Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model.Scientific reports · 2016Article
- Acute encephalopathy in familial hemiplegic migraine with ATP1A2 mutation.BMJ case reports · 2013Article
- Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models.Human genomics · 2013Review
- Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.The Journal of biological chemistry · 2012Article
- Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.PLoS genetics · 2011Article
- Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.Human genetics · 2009Article
- Molecular genetics of migraine.Human genetics · 2009Review
- The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2009Article
- Intravenous nimodipine worsening prolonged attack of familial hemiplegic migraine.The journal of headache and pain · 2008Article
- Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.The Journal of biological chemistry · 2008Article
- Na,K-ATPase and the role of alpha isoforms in behavior.Journal of bioenergetics and biomembranes · 2007Article
- Prolonged hemiplegic episodes in children due to mutations in ATP1A2.Journal of neurology, neurosurgery, and psychiatry · 2007Article
- Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.Journal of human genetics · 2007Article
- Migraine genetics: an update.Current pain and headache reports · 2005Review
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Authors and funding
13 authors at 7 institutions in 3 countries.
Funding
Abstract
Familial hemiplegic migraine (FHM), a rare autosomal dominant subtype of migraine with aura, has been linked to two chromosomal loci, 19p13 and 1q23. Mutations in the Na+K+-ATPase alpha2 subunit gene, ATP1A2, on 1q23 have recently been shown to cause familial hemiplegic migraine type 2 (FHM2). We sequenced the coding regions of this gene in a Finnish chromosome 1q23-linked FHM family with associated symptoms such as coma and identified a novel A1033G mutation in exon 9. This mutation results in a threonine-to-alanine substitution at codon 345. This residue is located in a highly conserved N-terminal region of the M4-5 loop of the Na+,K+-ATPase. Furthermore, the T345A mutation co-segregated with the disorder in our family and was not present in 132 healthy Finnish control individuals. For these reasons it is most likely the FHM-causing mutation in this family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.