Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status

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Holm R, Khandelwal J, Einholm AP, Andersen JP, Artigas P, Vilsen B. “Arginine Substitution of a Cysteine in Transmembrane Helix M8 Converts Na+,K+-ATPase to an Electroneutral Pump Similar to H+,K+-ATPase.” Proc Natl Acad Sci USA 114, no. 2 (January 10, 2017): 316-321.

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.

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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).