ArticleJournal of neurology, neurosurgery, and psychiatry2007
Prolonged hemiplegic episodes in children due to mutations in ATP1A2.
Article in Journal of neurology, neurosurgery, and psychiatry, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- EEG patterns in each phase of hemiplegic migraine: a systematic review and pooled prevalence meta-analysis.The journal of headache and pain · 2025Pooled it
- A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene.Pharmacogenomics and personalized medicine · 2024Article
- Genetics of migraine: where are we now?The journal of headache and pain · 2023Review
- Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.The Journal of biological chemistry · 2023Article
- Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine.BMJ case reports · 2019Article
- Importance of a Potential Protein Kinase A Phosphorylation Site of Na+,K+-ATPase and Its Interaction Network for Na+ Binding.The Journal of biological chemistry · 2016Article
- Familial Hemiplegic Migraine with Severe Attacks: A New Report withCase reports in neurological medicine · 2016Article
- Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.The Journal of biological chemistry · 2014Article
- Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.Nature genetics · 2014Article
- Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.Molecular genetics & genomic medicine · 2013Article
- Sporadic Hemiplegic Migraine with ATP1A2 and Prothrombin Gene Mutations.Case reports in neurological medicine · 2013Article
- Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.The Journal of biological chemistry · 2012Article
- Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase.Nature · 2010Article
- Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.Human genetics · 2009Article
- Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.Neurogenetics · 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
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundFamilial hemiplegic migraine (FHM) is an unusual migraine syndrome characterised by recurrent transient attacks of unilateral weakness or paralysis as part of the migraine aura. Genetically and clinically heterogeneous, FHM1 is caused by mutations in CACNA1A and FHM2 by mutations in ATP1A2.
aimThree children with prolonged hemiplegia were tested for mutations in CACNA1A or ATP1A2.
methodsMutations in CACNA1A and ATP1A2 were screened for by denaturing high performance liquid chromatography and confirmed by sequencing. Expression studies were performed to characterise the functional consequences of these mutations.
resultsNo mutation was found in the FHM1 gene while three mutations were identified in the FHM2 gene. All three mutations were missense: two were novel and one was de novo; none was found in controls. Functional studies in HeLa cells showed complete loss of mutant pump function without interfering with the wild-type pump, consistent with haploinsufficiency.
conclusionWe identified novel disease causing mutations in the FHM2 gene. Genetic screening for FHM should be considered in a child with prolonged hemiplegia even if there is no prior history or family history of migraine or hemiplegic episodes.
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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.