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Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y, Ohno K. “Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.” Brain Development. 2018 Aug; 40(7): 576-581. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760418300895?via%3Dihub

Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA,
Zeev BB. “CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.” Journal of Child Neurology (April 20, 2015).

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Johannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B, ATP1A3 Working Group. “Distinct Neurological Disorders with ATP1A3 Mutations.” Lancet Neurol. 13 no. 5 (May 2014): 503-14.

Heinzen E, Swoboda K, Hitomi Y, et al. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Nature Genetics 44, no.9 (September 2012): 1030-1034.

Helseth AR, Hunanyan AS, Adil S, Linabarger M, Sachdev M, Abdelnour E, Arehard E, Szabo M, Richardson J, Wetsel WC, Hochgeschwender U, Mikati MA. “Novel E815K Knock-in Mouse Model of Alternating Hemiplegia of Childhood.” Neurobiology of Disease. 2018 Nov; 119: 100-112. Abstract:
https://www.sciencedirect.com/science/article/pii/S0969996118303504?via%3Dihub

Hoei-Hansen C, Dali C, Lyngbye T, Duno M, Uldall P. “Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status.” European Journal of Paediatric Neurology 18 no. 1 (January 2014): 50-54.

Holm R, Einholm AP, Andersen JP, Vilsen B. “Rescue of Na+ affinity in Aspartate 928 Mutants of Na+,K+-ATPase by Secondary Mutation of Glutamate 314.” Journal of Biological Chemistry (April 10, 2015): 9801-9811.

De Koning, Tom J, Marina Tijssen. “Movement Disorders in 2014: Genetic Advances Spark a Revolution in Dystonia Phenotyping.” Nature Reviews Neurology (January 2015).

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