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Sen K, Hicks MA, Huq AHM, Agarwal R. “Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.” Neuropediatrics. 2019 Apr; 50(2): 122-125. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30650451

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. “Targeted Exome Analysis Identifies the Genetic Basis of Disease in over 50% of Patients with a Wide Range of Ataxia-related Phenotypes.” Genetics in Medicine. 2018 Jun 18. Abstract: https://www.nature.com/articles/s41436-018-0007-7

Sweney M, Newcomb T, Swoboda K. “The Expanding Spectrum of Neurological Phenotypes in Children with ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond.” Pediatric Neurology (January 2015): 56-64.

Talsma A, Chaves J, LaMonaca A, Wieczorek, Palladino M. “Genome-Wide Screen for Modifiers of Na+/K+ATPase Alleles Identifies Critical Genetic Loci.” Mol Brain (December 5, 2014).

Tanner GR, Lutas A, Martinez-Francois JR, Yellen G. “Single K ATP Channel Opening in Response to Action Potential Firing in Mouse Dentate Granule Neurons.” Journal of Neuroscience 31, no.23 (June 8, 2011).

Brockmann, K. “Episodic Movement Disorders: From Phenotype to Genotype and Back.” Curr Neurol Neurosci Rep. (October 13, 2013).

Le Bizec C, Nicole S, Panagiotakaki E, Seta N, and Vuillaumier-Barrot S. “No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and Patients with AHC Negative for ATP1A3.” JIMD Reports (September 4, 2013).

Cordani R, Pisciotta L, Mancardi MM, Stagnaro M, Prato G, Giacomini T, Morana G, Walsh P, Ghia T, Nobili L, De Grandis E. Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review. Neuropediatrics. 2022 Feb;53(1):69-74. Fulltext: https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0041-1739132

Li M, Jazayeri D, Corry B, Melodi McSweeney K, Heinzen E, Goldstein D, Petrou S. “A Functional Correlate of Severity in Alternating Hemiplegia of Childhood.” Neurobiology of Disease (February 12, 2015).

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).