ArticleThe journal of headache and pain2021
Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.
Article in The journal of headache and pain, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Migraine in children and adolescents.Developmental medicine and child neurology · 2026Review
- Hemiplegic migraine: genetics and pathophysiology.The Journal of clinical investigation · 2026Review
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
- Can video head impulse testing aid differential assessment of suspected vestibular migraine attacks?Frontiers in neurology · 2026Review
- A Self-Limited Early Neonatal-Infantile Benign Epilepsy with ATP1A2 Variant.Indian journal of pediatrics · 2025Article
- Expanding the Genetic and Clinical Spectrum ofInternational journal of molecular sciences · 2025Article
- Clinical characterization of a novelBrain communications · 2025Article
- Article
- The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.Neurogenetics · 2024Article
- Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.Journal of neurology · 2024Review
- The Dawn and Advancement of the Knowledge of the Genetics of Migraine.Journal of clinical medicine · 2024Review
- An Exceptionally Active and Highly Selective Perchlorate Transporter Containing a Trimesic Amide Scaffold.Molecules (Basel, Switzerland) · 2024Article
- A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene.Pharmacogenomics and personalized medicine · 2024Article
- Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation.Frontiers in neurology · 2024Article
- Article
- Start Me Up: How Can Surrounding Gangliosides Affect Sodium-Potassium ATPase Activity and Steer towards Pathological Ion Imbalance in Neurons?Biomedicines · 2022Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundMutations in ATP1A2, the gene encoding the α2 subunit of Na
methodsTen ATP1A2 missense mutations were selected according to different phenotypes of FHM patients. They caused pure FHM (FHM: R65W, R202Q, R593W, G762S), FHM with epilepsy (FHME: R548C, E825K, R938P), or FHM with epilepsy and intellectual disability (FHMEI: T378N, G615R, D718N). After ouabain resistance and fluorescence modification, plasmids carrying those mutations were transiently transfected into HEK293T and HeLa cells. The biochemical functions were studied including cell survival assays, membrane protein extraction, western blotting, and Na
resultsCompared with wild-type pumps, all mutations showed a similar level of protein expression and decreased cell viability in the presence of 1 µM ouabain, and there was no significant difference among the mutant groups. The changes in Na
conclusionsATP1A2 mutations cause phenotypes ranging from pure FHM to FHM with epilepsy and intellectual disability due to varying degrees of deficits in biochemical and electrophysiological properties of Na
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Registered trials
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