Disease causing variants of the ATP1A3 gene are known to cause a variety of movement disorders and epilepsies.[8] The known associations include a variety of syndromes, in approximate order of presentation:
Lingrel JB, Orlowski J, Shull MM, Price EM (1990). "Molecular genetics of Na,K-ATPase". Prog. Nucleic Acid Res. Mol. Biol. Progress in Nucleic Acid Research and Molecular Biology. 38: 37–89.
doi:
10.1016/S0079-6603(08)60708-4.
ISBN978-0-12-540038-1.
PMID2158121.
Sverdlov ED, Monastyrskaia GS, Broude NE, Ushkarev IuA, Melkov AM (1988). "The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII" [The family of human Na+,+-ATPase genes. Structure of the gene for isozyme alphaII]. Doklady Akademii Nauk SSSR. 297 (6): 1488–94.
PMID2834163.
Harley HG, Brook JD, Jackson CL, Glaser T, Walsh KV, Sarfarazi M, Kent R, Lager M, Koch M, Harper PS (1989). "Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus". Genomics. 3 (4): 380–4.
doi:
10.1016/0888-7543(88)90131-0.
PMID2907504.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
Esplin MS, Fausett MB, Faux DS, Graves SW (2003). "Changes in the isoforms of the sodium pump in the placenta and myometrium of women in labor". Am. J. Obstet. Gynecol. 188 (3): 759–64.
doi:
10.1067/mob.2003.166.
PMID12634653.
Disease causing variants of the ATP1A3 gene are known to cause a variety of movement disorders and epilepsies.[8] The known associations include a variety of syndromes, in approximate order of presentation:
Lingrel JB, Orlowski J, Shull MM, Price EM (1990). "Molecular genetics of Na,K-ATPase". Prog. Nucleic Acid Res. Mol. Biol. Progress in Nucleic Acid Research and Molecular Biology. 38: 37–89.
doi:
10.1016/S0079-6603(08)60708-4.
ISBN978-0-12-540038-1.
PMID2158121.
Sverdlov ED, Monastyrskaia GS, Broude NE, Ushkarev IuA, Melkov AM (1988). "The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII" [The family of human Na+,+-ATPase genes. Structure of the gene for isozyme alphaII]. Doklady Akademii Nauk SSSR. 297 (6): 1488–94.
PMID2834163.
Harley HG, Brook JD, Jackson CL, Glaser T, Walsh KV, Sarfarazi M, Kent R, Lager M, Koch M, Harper PS (1989). "Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus". Genomics. 3 (4): 380–4.
doi:
10.1016/0888-7543(88)90131-0.
PMID2907504.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
Esplin MS, Fausett MB, Faux DS, Graves SW (2003). "Changes in the isoforms of the sodium pump in the placenta and myometrium of women in labor". Am. J. Obstet. Gynecol. 188 (3): 759–64.
doi:
10.1067/mob.2003.166.
PMID12634653.