Associated disorders

The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine (MedGen UID: 355962).

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Pathogenic variants in the ATP1A2 gene are associated with ~7% of clinical cases of familial hemiplegic migraine.

Na+/K+-ATPases actively move sodium ions (Na+) out of the cell and potassium ions (K+) into the cell, creating an electrochemical gradient. The ATP1A2 gene encodes an alpha 2 subunit of the Na+/K+ ATPase that is expressed in brain and muscle tissues.

  1. Jen, JC. Familial Hemiplegic Migraine. 2001 Jul 17. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: PMID: 20301562
  2. Swarts, HG, et al. Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions. Biochim. Biophys. Acta. 2013; 1832(12):2173-9. PMID: 23954377
  3. Carreño, O, et al. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies. Mol Genet Genomic Med. 2013; 1(4):206-22. PMID: 24498617
  4. Castro, MJ, et al. Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. Clin. Genet. 2008; 73(1):37-43. PMID: 18028456
  5. Vanmolkot, KR, et al. Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Ann. Neurol. 2006; 59(2):310-4. PMID: 16437583
  6. Gallanti, A, et al. A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures. J. Neurol. Sci. 2008; 273(1-2):123-6. PMID: 18644608
  7. Vanmolkot, KR, et al. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann. Neurol. 2003; 54(3):360-6. PMID: 12953268
  8. Todt, U, et al. Rare missense variants in ATP1A2 in families with clustering of common forms of migraine. Hum. Mutat. 2005; 26(4):315-21. PMID: 16110494

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ATP1A2 NM_000702.3