Gene Review:
ATP1A2 - ATPase, Na+/K+ transporting, alpha 2...
Homo sapiens
Synonyms:
FHM2, KIAA0778, MHP2, Na(+)/K(+) ATPase alpha-2 subunit, Sodium pump subunit alpha-2, ...
Nyholt,
Morley,
Ferreira,
Medland,
Boomsma,
Heath,
Merikangas,
Montgomery,
Martin,
Lohoff,
Ferraro,
Sander,
Zhao,
Dahl,
Berrettini,
Buono,
Jen,
Kim,
Dudding,
Baloh,
Buono,
Ferraro,
O'Connor,
Sperling,
Abbey,
Finanger,
Lohoff,
Mulholland,
Berrettini,
Martinelli Boneschi,
Aridon,
Zara,
Guerrini,
Marini,
De Fusco,
Comi,
Casari,
- Significant linkage to migraine with aura on chromosome 11q24. Cader, Z.M., Noble-Topham, S., Dyment, D.A., Cherny, S.S., Brown, J.D., Rice, G.P., Ebers, G.C. Hum. Mol. Genet. (2003)
- No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Jen, J.C., Kim, G.W., Dudding, K.A., Baloh, R.W. Arch. Neurol. (2004)
- Analysis of chromosome 1 microsatellite markers and the FHM2-ATP1A2 gene mutations in migraine pedigrees. Curtain, R.P., Lea, R.A., Tajouri, L., Haupt, L.M., Ovcaric, M., MacMillan, J., Griffiths, L.R. Neurol. Res. (2005)
- Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Vanmolkot, K.R., Stroink, H., Koenderink, J.B., Kors, E.E., van den Heuvel, J.J., van den Boogerd, E.H., Stam, A.H., Haan, J., De Vries, B.B., Terwindt, G.M., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M. Ann. Neurol. (2006)
- A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. Bassi, M.T., Bresolin, N., Tonelli, A., Nazos, K., Crippa, F., Baschirotto, C., Zucca, C., Bersano, A., Dolcetta, D., Boneschi, F.M., Barone, V., Casari, G. J. Med. Genet. (2004)
- Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. De Fusco, M., Marconi, R., Silvestri, L., Atorino, L., Rampoldi, L., Morgante, L., Ballabio, A., Aridon, P., Casari, G. Nat. Genet. (2003)
- Genomewide significant linkage to migrainous headache on chromosome 5q21. Nyholt, D.R., Morley, K.I., Ferreira, M.A., Medland, S.E., Boomsma, D.I., Heath, A.C., Merikangas, K.R., Montgomery, G.W., Martin, N.G. Am. J. Hum. Genet. (2005)
- A complex dinucleotide repeat polymorphism in the human Na+K+ATPase alpha subunit (ATP1A2) gene. Lim, L.C., Gill, M. Hum. Mol. Genet. (1993)
- Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Vanmolkot, K.R., Kors, E.E., Hottenga, J.J., Terwindt, G.M., Haan, J., Hoefnagels, W.A., Black, D.F., Sandkuijl, L.A., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M. Ann. Neurol. (2003)
- A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Spadaro, M., Ursu, S., Lehmann-Horn, F., Liana, V., Giovanni, A., Paola, G., Frontali, M., Jurkat-Rott, K. Neurogenetics (2004)
- Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Yang-Feng, T.L., Schneider, J.W., Lindgren, V., Shull, M.M., Benz, E.J., Lingrel, J.B., Francke, U. Genomics (1988)
- Mapping of the Na+, K(+)-ATPase subunit alpha 2 (ATP1A2) and muscle phosphofructokinase (PFKM) genes in pig by somatic cell hybrid analysis. Fontanesi, L., Davoli, R., Zijlstra, C., Bosma, A.A., Russo, V. Anim. Genet. (1999)
- Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPase. Buono, R.J., Ferraro, T.N., O'Connor, M.J., Sperling, M.R., Abbey, M., Finanger, E., Lohoff, F., Mulholland, N., Berrettini, W.H. Am. J. Med. Genet. (2000)
- Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Jen, J.C., Wan, J., Palos, T.P., Howard, B.D., Baloh, R.W. Neurology (2005)
- Recent advances in understanding migraine mechanisms, molecules and therapeutics. Goadsby, P.J. Trends in molecular medicine (2007)
- Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4. Keryanov, S., Gardner, K.L. Gene (2002)
- Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. von Brevern, M., Ta, N., Shankar, A., Wiste, A., Siegel, A., Radtke, A., Sander, T., Escayg, A. Headache. (2006)
- No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. Lohoff, F.W., Ferraro, T.N., Sander, T., Zhao, H., Dahl, J.P., Berrettini, W.H., Buono, R.J. Neurosci. Lett. (2005)
- No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures. Martinelli Boneschi, F., Aridon, P., Zara, F., Guerrini, R., Marini, C., De Fusco, M., Comi, G., Casari, G. Neurosci. Lett. (2005)
- Haplotype-based systematic association studies of ATP1A2 in migraine with aura. Netzer, C., Todt, U., Heinze, A., Freudenberg, J., Zumbroich, V., Becker, T., Goebel, I., Ohlraun, S., Goebel, H., Kubisch, C. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2006)