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Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M. “An Infant with Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.” Pediatric Neurology 75 (October 2017): 87-90.

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

Bizec CL, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S. “No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLCA21 and in Patients with AHC Negative for ATP1A3.” JIMD Rep. 12 (2014):115-120.

Boelman C, Lagman-Bartolome A, MacGregor D, McCabe J, Logan W, Minassian B. “Identical ATP1A3 Mutation Causes Alternating Hemiplegia of Childhood and Rapid-Onset Dystonia Parkinsonism Phenotypes.” Pediatric Neurology (December 2014): 850-853.

Panagiotakaki E, de Grandis E, Stagnaro M, et al. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood ‐ a study of 155 patients. Orphanet J Rare Dis 2015;10(1):123.

Rosewich H, Thiele H, Ohlenbusch A, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11(9):764-773.

Save J, Poncelin D, Auvin S. Caregiver’s burden and psychosocial issues in alternating hemiplegia of childhood. Eur J Paediatr Neurol. 2013;17:515–521.

Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015 Jan;52(1):56-64.

Uchitel J, Abdelnour E, Boggs, A, Mikati, M. Social Impairments in Alternating Hemiplegia of Childhood. Developmental Medicine & Child Neurology. 2020 July, 62 (7); 820-826.