| 1 | ATP1A2, ATP1A3, DEE98, DEE99
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| ATP1A2/A3-collaborators. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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| Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R;
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| Brain. Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052 2021
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| 2 | ATP1A2, DEE98
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| Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.
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| Moya-Mendez ME, Mueller DM, Pratt M, Bonner M, Elliott C, Hunanyan A, Kucera G, Bock C, Prange L, Jasien J, Keough K, Shashi V, McDonald M, Mikati MA.
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| Epilepsy Behav. Mar;116:107732. doi: 10.1016/j.yebeh.2020.107732. Epub 2021 Jan 23. 2021
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| 3 | ATP1A2, FARIMPD
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| Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
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| Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F.
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| Eur J Med Genet. Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25. 2020
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| 4 | ATP1A1, ATP1A2, ATP1A3
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| Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3.
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| Sweadner KJ, Arystarkhova E, Penniston JT, Swoboda KJ, Brashear A, Ozelius LJ.
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| Neurol Genet Feb 4;5(1):e303. doi: 10.1212/NXG.0000000000000303. 2019
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| 5 | ATP1A2, FARIMPD
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| A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants
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| Chatron N, Cabet S, Alix E, Buenerd A, Cox P, Guibaud L, Labalme A, Marks P, Osio D, Putoux A, Sanlaville D, Lesca G, Vasiljevic A.
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| Brain. Nov 1;142(11):3367-3374. doi: 10.1093/brain/awz272. 2019
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| 6 | ATP1A2, MHP2
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| Pediatric sporadic hemiplegic migraine (ATP1A2 gene): a case report and brief literature review.
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| Schwarz G, Anzalone N, Baldoli C, Impellizzeri M, Minicucci F, Comi G, Colombo B.
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| Neurol Sci. Jun;39(Suppl 1):69-71. doi: 10.1007/s10072-018-3405-3. 2018
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| 7 | ATP1A1, ATP1A2, ATP1A3, ATP1A4, GPNMB
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| Glycoprotein nonmetastatic melanoma protein B (GPNMB) promotes the progression of brain glioblastoma via Na+/K+-ATPase.
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| Ono Y, Chiba S, Yano H, Nakayama N, Saio M, Tsuruma K, Shimazawa M, Iwama T, Hara H.
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| Biochem Biophys Res Commun 481(1-2):7-12. doi: 10.1016/j.bbrc.2016.11.034. Epub 2016 Nov 9.
2016
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| 8 | ATP1A2, ATP1A3, DYT12, FHM2
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| Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase.
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| Poulsen H, Khandelia H, Morth JP, Bublitz M, Mouritsen OG, Egebjerg J, Nissen P.
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| Nature 467(7311):99-102. Epub 2010 Aug 15.PMID: 20720542 2010
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| 9 | ATP1A2, ATP1A3
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| The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.
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| Morth JP, Poulsen H, Toustrup-Jensen MS, Schack VR, Egebjerg J, Andersen JP, Vilsen B, Nissen P.
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| Philos Trans R Soc Lond B Biol Sci 364(1514):217-27. 2009
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| 10 | ATP1A2, ATP1A3, DYT12, MHP2
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| Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.
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| Ashmore LJ, Hrizo SL, Paul SM, Van Voorhies WA, Beitel GJ, Palladino MJ.
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| Hum Genet 126(3):431-47. Epub 2009 May 12.PMID: 19455355 2009
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| 11 | ATP1A1, ATP1A2, ATP1A3
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| Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders.
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| Goldstein I, Lerer E, Laiba E, Mallet J, Mujaheed M, Laurent C, Rosen H, Ebstein RP, Lichtstein D.
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| Biol Psychiatry 65(11):985-91. Epub 2008 Dec 5.
2009
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| 12 | ATP1A2, MHP2
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| Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.
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| de Vries B, Stam AH, Kirkpatrick M, Vanmolkot KR, Koenderink JB, van den Heuvel JJ, Stunnenberg B, Goudie D, Shetty J, Jain V, van Vark J, Terwindt GM, Frants RR, Haan J, van den Maagdenberg AM, Ferrari MD.
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| Epilepsia 50(11):2503-4. No abstract available. PMID: 19874388 2009
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| 13 | ATP1A2, MHP2
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| Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
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| Castro MJ, Nunes B, de Vries B, Lemos C, Vanmolkot KR, van den Heuvel JJ, Temudo T, Barros J, Sequeiros J, Frants RR, Koenderink JB, Pereira-Monteiro JM, van den Maagdenberg AM.
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| Clin Genet 73(1):37-43. Epub 2007 Nov 19. 2008
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| 14 | ATP1A2, MHP2
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| Epilepsy as part of the phenotype associated with ATP1A2 mutations.
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| Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P.
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| Epilepsia 49(3):500-8. Epub 2007 Nov 19.PMID: 18028407 2008
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| 15 | APHC, ATP1A2
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| A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures.
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| Gallanti A, Tonelli A, Cardin V, Bussone G, Bresolin N, Bassi MT.
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| J Neurol Sci 273(1-2):123-6. Epub 2008 Jul 21.
2008
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| 16 | MHP2, ATP1A2
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| First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
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| Vanmolkot KR, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH, van Vark J, van den Heuvel JJ, Bajaj N, Terwindt GM, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM.
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| Eur J Hum Genet 15(8):884-8. Epub 2007 May 2. 2007
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| 17 | ATP1A2, MHP2
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| Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
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| Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KR, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AM.
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| J Hum Genet 52(12):990-8. Epub 2007 Oct 19. 2007
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| 18 | ATP1A2, MHP2
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| Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.
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| Tonelli A, Gallanti A, Bersano A, Cardin V, Ballabio E, Airoldi G, Redaelli F, Candelise L, Bresolin N, Bassi MT.
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| Clin Genet 72(6):517-23. Epub 2007 Sep 18. 2007
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| 19 | ATP1A2, MHP2
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| Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.
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| Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, van den Maagdenberg AM.
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| Eur J Hum Genet 14(5):555-60. 2006
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| 20 | ATP1A2, MHP2
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| Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.
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| Vanmolkot KR, Stroink H, Koenderink JB, Kors EE, van den Heuvel JJ, van den Boogerd EH, Stam AH, Haan J, De Vries BB, Terwindt GM, Frants RR, Ferrari MD, van den Maagdenberg AM.
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| Ann Neurol 59(2):310-4. 2006
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| 21 | ATP1A2, MHP2
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| Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.
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| Segall L, Mezzetti A, Scanzano R, Gargus JJ, Purisima E, Blostein R.
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| Proc Natl Acad Sci U S A 102(31):11106-11. Epub 2005 Jul 21. 2005
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| 22 | MHP2, ATP1A2
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| Familial basilar migraine associated with a new mutation in the ATP1A2 gene.
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| Ambrosini A, D'Onofrio M, Grieco GS, Di Mambro A, Montagna G, Fortini D, Nicoletti F, Nappi G, Sances G, Schoenen J, Buzzi MG, Santorelli FM, Pierelli F.
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| Neurology 65(11):1826-8. 2005
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| 23 | MHP2, ATP1A2, AHPC
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| A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
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| Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G.
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| J Med Genet 41(8):621-8. No abstract available. 2004
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| 24 | AHPC, ATP1A2
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| Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
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| Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S.
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| Ann Neurol 55(6):884-7. 2004
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| 25 | ATP1A2, MHP2
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| Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2
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| De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G.
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| Nat Genet 33(2):192-6. 2003
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| 26 | ATP1A2, MHP2
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| Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
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| Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM.
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| Ann Neurol 54(3):360-6. 2003
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| 27 | AHPC, ATP1A2
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| Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
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| Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S.
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| Dev Med Child Neurol 45(12):833-6. Erratum in: Dev Med Child Neurol. 2004 Apr;46(4):288. 2003
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| 28 | ADGRL2, ADGRL3, ADNP, AKAP9, ANGEL1, ARHGAP32, ATP10B, ATP1A2, BAG5, BAIAP3, CAMKK2, CLCC1, CLSTN3, DDHD2, DDN, DDX46, DDX46, DGKB, DIP, DOCK4, DST, EIF5B, EPM2AIP1, FAM131B, FAM153A, FARP2, FCHSD2, GPR116, HDAC9, IPO13, KBTBD11, KIAA0748, KIAA0753, KIAA0754, KIAA0802, KLHL18, LARP1, LRIG2, MAST2, MTUS2, MYO10, MYO1D, NFASC, NRXN3, NUP155, OSBPL2, PCNX, PHF14, PPP1R13B, RAD54L2, RBM12, RHOBTB1, RHOBTB2, RIMS2, SACS, SASH1, SEC24A, SEC24B, SEC24C, SEC24D, SENP6, SLC4A8, SNRNP200, SNX13, SORBS2, SPATA2, SPON1, SUPT7L, SV2A, SV2B, SYNE1, TBKBP1, TCAF1, TMCC1, TMEM63A, TOMM70A, TSPYL4, UBXN7, ULK1, USP34, VPRBP, VPS39, VPS8, WSCD2, XPO7, ZBED1, ZBED1Y, ZNF294, ZNF423, ZNF432
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| Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
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| DNA Res 5(5):277-86. 1998
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| 29 | ATP1A2
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| A complex dinucleotide repeat polymorphism in the human Na+K+ATPase alpha subunit (ATP1A2) gene.
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| Lim LCC, et al.
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| Hum Mol Genet 2 : 616. 1993
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| 30 | ATP1A1, ATP1A2, ATP1A3
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| Population genetic analysis of Na, K-ATPase alpha-genes RFLP's among Russians in Moscow region.
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| Petronis A, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2024-2025. 1991
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| 31 | MOAP1, APCS, ATP1A2, ATP1B1, CD48, SELE, S100A6
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| Analyses of gene linkage relationships in the mouse using an interspecific cross : comparative mapping of genes localizes to human chromosomes 1.
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| Seldin MF, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1077. 1989
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| 32 | MOAP1, ATP1A2, LAMC1, D1S52, D1S53, D1S54, D1S65, D1S70
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| A multipoint genetic map and new RFLPs for human chromosome 1.
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| Buetow KH, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 972. 1989
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| 33 | ATP1A2
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| Characterization of the human Na,K-ATPase alpha2 gene and identification of intragenic restriction fragment length polymorphisms.
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| Shull MM, et al.
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| J Biol Chem 264 : 17532-17543. 1989
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| 34 | ATP1A1, ATP12A, ATP1A2, ATP1B1, ATP1BL1
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| Chromosomal localization of human Na+, K+ -ATPase alpha- and beta-subunit genes.
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| Yang-Feng TL, et al.
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| Genomics 2 : 128-138. 1988
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| 35 | ATP1A1, ATP1A2, ATP1A3, ATP1A4
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| Multiple genes encode the human Na+,K+-ATPase catalytic subunit.
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| Shull MM, et al.
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| Proc Natl Acad Sci U S A 84 : 4039-4043. 1987
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