ArticleJournal of human genetics2007
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
Article in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 22 citations in OpenAlex.
- Familial Hemiplegic Migraine with Severe Attacks: A New Report withCase reports in neurological medicine · 2016Article
- Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2).The journal of headache and pain · 2012Article
- Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.The Journal of biological chemistry · 2012Article
- Migraine and epilepsy: a focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects.Current pain and headache reports · 2010Review
- Pathways-based analyses of whole-genome association study data in bipolar disorder reveal genes mediating ion channel activity and synaptic neurotransmission.Human genetics · 2009Article
- 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
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes have been identified, all involved in ion transport. There is considerable clinical variation associated with FHM mutations. Genotype-phenotype correlation studies are needed, but are challenging mainly because the number of carriers of individual mutations is low. One exception is the recurrent T666M mutation in the FHM1 CACNA1A gene that was identified in almost one-third of FHM families and showed variable associated clinical features and severity, both within and among FHM families. Similar studies in the FHM2 ATP1A2 gene have not been performed because of the low number of carriers with individual mutations. Here we report on the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two Portuguese FHM families. Considerably increasing the number of mutation carriers with these mutations indicated a clear genotype-phenotype correlation: both mutations are associated with pure FHM. In addition, we show that recurrent mutations for ATP1A2 are more frequent than previously thought, which has implications for genotype-phenotype correlations and genetic testing.
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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.