Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J et al (2020) Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis, and extensive cortical malformations. Eur J Med Genet 63(1):103624

Article  PubMed  Google Scholar 

Chatron N, Cabet S, Alix E, Buenerd A, Cox P, Guibaud L et al (2019) A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. Brain 142(11):3367–3374

Article  PubMed  Google Scholar 

Isaksen TJ, Lykke-Hartmann K (2016) Insights into the Pathology of the α2-Na(+)/K(+)-ATPase in Neurological Disorders. Lessons from Animal Models Front Physiol 7:161

PubMed  Google Scholar 

Shull MM, Pugh DG, Lingrel JB (1989) Characterization of the human Na, K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms. J Biol Chem 264(29):17532–17543

Article  PubMed  CAS  Google Scholar 

Fedosova NU, Habeck M, Nissen P (2021) Structure and Function of Na K-ATPase-The Sodium-Potassium Pump. Compr Physiol 12(1):2659–2679

Article  PubMed  Google Scholar 

Morth JP, Pedersen BP, Toustrup-Jensen MS, Sørensen TL, Petersen J, Andersen JP et al (2007) Crystal structure of the sodium-potassium pump. Nature 450(7172):1043–1049

Article  PubMed  CAS  Google Scholar 

Skou JC (1957) The influence of some cations on an adenosine triphosphatase from peripheral nerves. Biochim Biophys Acta 23(2):394–401

Article  PubMed  CAS  Google Scholar 

Nguyen PT, Deisl C, Fine M, Tippetts TS, Uchikawa E, Bai XC et al (2022) Structural basis for gating mechanism of the human sodium-potassium pump. Nat Commun 13(1):5293

Article  PubMed  PubMed Central  CAS  Google Scholar 

Gritz SM, Radcliffe RA (2013) Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models. Hum Genomics 7(1):8

Article  PubMed  PubMed Central  Google Scholar 

Floyd RV, Wray S, Quenby S, Martín-Vasallo P, Mobasheri A (2010) Expression and distribution of Na, K-ATPase isoforms in the human uterus. Reprod Sci 17(4):366–376

Article  PubMed  CAS  Google Scholar 

Murata K, Kinoshita T, Ishikawa T, Kuroda K, Hoshi M, Fukazawa Y (2020) Region- and neuronal-subtype-specific expression of Na, K-ATPase alpha and beta subunit isoforms in the mouse brain. J Comp Neurol 528(16):2654–2678

Article  PubMed  PubMed Central  CAS  Google Scholar 

Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z et al (2021) ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain 144(5):1435–1450

Article  PubMed  Google Scholar 

Stregapede F, Travaglini L, Rebelo AP, Cintra VP, Bellacchio E, Bosco L et al (2020) Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Clin Genet 97(3):521–526

Article  PubMed  CAS  Google Scholar 

Clausen MV, Hilbers F, Poulsen H (2017) The Structure and Function of the Na, K-ATPase Isoforms in Health and Disease. Front Physiol 8:371

Article  PubMed  PubMed Central  Google Scholar 

Crambert G, Hasler U, Beggah AT, Yu C, Modyanov NN, Horisberger JD et al (2000) Transport and pharmacological properties of nine different human Na K-ATPase isozymes. J Biol Chem 275(3):1976–1986

Article  PubMed  CAS  Google Scholar 

Jimenez T, McDermott JP, Sánchez G, Blanco G (2011) Na, K-ATPase alpha4 isoform is essential for sperm fertility. Proc Natl Acad Sci U S A 108(2):644–649

Article  PubMed  CAS  Google Scholar 

Lazarov E, Hillebrand M, Schröder S, Ternka K, Hofhuis J, Ohlenbusch A et al (2020) Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity. Neurobiol Dis 143:105012

Article  PubMed  CAS  Google Scholar 

Warby S (2004) What happens when the pumps fail? Mutations in ATP1A3 are linked to dystonia. Clin Genet 66(5):393–395

Article  Google Scholar 

Castro MJ, Nunes B, de Vries B, Lemos C, Vanmolkot KR, van den Heuvel JJ et al (2008) 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 73(1):37–43

Article  PubMed  CAS  Google Scholar 

De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L et al (2003) Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33(2):192–196

Article  PubMed  Google Scholar 

Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S (2003) Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. Dev Med Child Neurol 45(12):833–836

Article  PubMed  Google Scholar 

Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C et al (2004) A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J Med Genet 41(8):621–628

Article  PubMed  PubMed Central  CAS  Google Scholar 

Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB et al (2004) Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol 55(6):884–887

Article  PubMed  CAS  Google Scholar 

Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26(5):589–595

Article  PubMed  PubMed Central  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A et al (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297–1303

Article  PubMed  PubMed Central  CAS  Google Scholar 

Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164

Article  PubMed  PubMed Central  Google Scholar 

Zhang B, Zhu Z, Zhang X, Li F, Ding A (2022) Inhibition of the proliferation, invasion, migration, and epithelial-mesenchymal transition of prostate cancer cells through the action of ATP1A2 on the TGF-β/Smad pathway. Transl Androl Urol 11(1):53–66

Article  PubMed  PubMed Central  Google Scholar 

Vanmolkot KR, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH et al (2007) First case of compound heterozygosity in Na, K-ATPase gene ATP1A2 in familial hemiplegic migraine. Eur J Hum Genet 15(8):884–888

Article  PubMed  CAS  Google Scholar 

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB et al (2017) An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. Pediatr Neurol 75:87–90

Article  PubMed  Google Scholar 

Furukawa S, Kato M, Nomura T, Sumitomo N, Yoneno S, Nakashima M et al (2024) Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence. Am J Med Genet A 194(3):e63453

Article  PubMed  CAS  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424

Article  PubMed  PubMed Central  Google Scholar 

Tavraz NN, Friedrich T, Dürr KL, Koenderink JB, Bamberg E, Freilinger T et al (2008) Diverse functional cons