Back Donate
Default image for pages

Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y. “ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients.” PLos ONE 9, no. 5 (May 2014).

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).

Ulate-Campos A, Fons C, Arthuc R, Castejon E, Martorell L, Ozelius L, Pascual J, Campistol J. “Alternating Hemiplegia of Childhood with a De Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to Ketogenic Diet.” Pediatr Neurol (April 2014): 377-379.

Vila-Pueyo M, Pons R, Raspall-Chaure M, Marcė-Grau A, Carreńno O, Sintas C, Cormand B, Pineda-Marfá M, Macaya A. “Clinical and Genetic Analysis in Alternating Hemiplegia of Childhood: Ten New Patients from Southern Europe.” J Neurol Sci. 344, no.1–2 (2014): 37–42.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelso B, Andermann F, Andermann E, Ascadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse Sd, Galas D, Friedman J, Hood L, Huff C, Jorde

Liu Y, Bao X, Wang D, et al. “Allelic Variations of Glut-1 Deficiency Syndrome: the Chinese Experience.” Pediatric Neurology47, no. 1 (July 2012): 30-34.
Ozelius, L. “Clinical Spectrum of Disease Associated with ATP1A3 Mutations.” Lancet Neurology 11, no. 9 (September 2012): 741-743.