ArticleThe journal of headache and pain2021
Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.
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 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions.Neural regeneration research · 2026Article
- Can video head impulse testing aid differential assessment of suspected vestibular migraine attacks?Frontiers in neurology · 2026Review
- Article
- Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation.Frontiers in neurology · 2024Article
- A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.Molecular genetics & genomic medicine · 2023Article
- Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review.Frontiers in pediatrics · 2023Article
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Authors and funding
6 authors at 2 institutions in 3 countries.
Funding
Abstract
backgroundThe mechanisms of genotype-phenotype interaction in Familiar Hemiplegic migraine type 2 (FHM2) are still far from clear. Different ATP1A2 mutations have been described, with a spectrum of phenotypes ranging from mild to severe. No genotype-phenotype correlations have been attempted. CASE PRESENTATION: We describe an Italian family with FHM and a missense ATP1A2 variant (L425H) not previously described. The clinical picture was mild in all the affected members.
conclusionsCo-segregation of the variant with the aura phenotype was complete in this family, suggesting a 100% penetrance. In silico protein prediction softwares indicate that this variant may change the 3D structure of ATPA1A2 at the cytoplasmic loop between the two central transmembrane helices. Milder FHM phenotypes are rarely reported in literature, likely because case reports are biased towards the most severe phenotypes, with milder forms possibly misdiagnosed as sporadic migraine with aura forms (MAs), even with complex auras. Further studies taking into account intra-familiar variability and functional consequences on the channel protein may help clarify genotype-phenotype correlations.
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