Expanding Phenotype of ATP1A3 – Related Disorders: A Case Series

De Vrieze J, van de Laar IMBH, de Rijk-van Andel JF, Kamsteeg EJ, Kotsopoulos IAW, de Man SA. Expanding Phenotype of ATP1A3 – Related Disorders: A Case Series. Child Neurol Open. 2021 Nov 3;8. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573619/pdf/10.1177_2329048X211048068.pdf

Holm R, Toustrup-Jensen MS, Einholm AP, Schack VR, Andersen JP, Vilsen B. “Neurological Disease Mutations of a3 Na+,K+-ATPase: Structural and Functional Perspectives and Resucue of Compromised Function.” Biochim Biophys Acta (November 2016): 1807-1828.

Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K. “Functional Studies and Proteomics in Platelets and Fibroblasts Reveal a Lysosomal Defect with Increased Cathepsin-dependent Apoptosis in ATP1A3 Defective Alternating Hemiplegia of Childhood.” Journal of Proteomics (May 13, 2013).

Holm TH, Isaksen TJ, Clerup S, Heuck A, Nissen P, Lykke-Hartmann K. “Cognitive Deficits Caused by a Disease-Mutation in the a3 Na(+)/K(+)-ATPase Isoform.” Scientific Reports (August 23, 2016).

Dobretsov M, Hayar A, Kockara N, Kozhemyakin M, Light K, Patyal P, Pierce D, Wight P. “A Transgenic Mouse Model to Selectively Identify α3 Na,K-ATPase Expressing Cells in the Nervous System.” Neuroscience. 2018 Jul 19. Abstract: https://www.sciencedirect.com/science/article/abs/pii/S0306452218304937

Holm TH, Lykke-Hartmann K. “Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.” Frontiers in Physiology (June 14, 2016).

Fernandes C, Mikati MA. “The Expanding Spectrum of ATP1A3 Related Disease.” Eur J Paediatr Neurol. 2019 May; 23(3): 345-346. No abstract available.

Doganli C, et al. “A3Na+/K+-ATPase Deficiency Causes Brain Ventricle Dilation and Abrupt Embryonic Motility in Zebrafish.” J Biol Chem. 288, no. 13 (March 29, 2013): 8862-74.

Azarias, et al. “A Specific and Essential Role for NA.K-ATPase a 3 in Neurons Co-expressing a 1 a 3.” J Biol Che. 288, no. 4 (January 25, 2013): 2734-43.

Balint B, Stephen CD, Udani V, Sankhla CS, Barad NH, Lang AE, Bhatia KP. “Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related Disease.” Mov Disord Clin Pract. 2019 Apr 4; 6(4):312-315. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31061839