rs187733403
This variant is located in the ATP1A2 gene.
▶ClinVar annotation
Alternating hemiplegia of childhood 1; Familial hemiplegic migraine; not provided; Migraine, familial hemiplegic, 2; Inborn genetic diseases; Developmental and epileptic encephalopathy 98
View on ClinVar →▶Research that mentions this SNP (1)
▶Association study of the serotoninergic system in migraine in the spanish populationFunctionalN=149Corominas R. et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Development and validation of a targeted NGS panel for diagnosing familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA2), CADASIL, and migraine with aura. In 149 patients across 4 cohorts (55 FHM, 44 CADASIL, 31 EA2, 19 migraine families), the panel identified novel and known mutations in genes CACNA1A, ATP1A2, SCN1A, and NOTCH3, increasing mutation detection rate from 7.7% to 28.5%. Notably, ATP1A2 and NOTCH3 mutations were identified in typical migraine with aura families for the first time, demonstrating aetiological overlap with FHM.
About ATP1A2
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
View all ATP1A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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