A Novel ATP1A3 Mutation with Unique Clinical Presentation

Rosewich H. Baethmann M, Ohlenbush A, Gartner J, Brockmann K. “A Novel ATP1A3 Mutation with Unique Clinical Presentation.” J Neurol Sci. 341 (June 15, 2014).

Weller CM, Leen WG, Neville BG, Duncan JS, Vries BD, Geilenkirchen MA, Haan J, Kamsteeg EJ, Ferrari MD, Maagdenberg AM, Willemsen MA, Scheffer H, Terwindt GM. “A Novel SLC2A1 Mutation Linking Hemiplegic Migraine with Alternating Hemiplegia of Childhood.” Cephalalgia (May 13, 2014).

Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carriho L, Fiori S, Lourenco CM, Sawyer S, Steinfeld R, Gartner J, Brockmann K. “The Expanding Clinical and Genetic Spectrum of ATP1A3-Related Disorders.” Neurology 18, no. 82 (March 18, 2014): 945-955.

Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VS, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. “Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.” Journal of Pediatrics (February 2017): 306-308.

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 Neurology 11, no.9 (September 2012): 764-73.

Rosewich H, Weise D, Ohlenbusch A, Gartner J, Brockmann K. “Phenotypic Overlap of Alternating Hemiplegia of Childhood and CAPOS Syndrome.” Neurology (August 26, 2014).

Rotstein M, Doran J, Yang, H, Ullner PM, Engelstad K, DeVivo DC. “Glut1 Deficiency and Alternating Hemiplegia of Childhood.” Neurology 73, no.23 (December 8, 2009): 2042-2044.

Sasaki M, Ishii A, Saito Y, Morisada N, et al. “Genotype-Phenotype Correlations in Alternating Hemiplegia of Childhood.” Neurology 82, no. 6 (February 11, 2014): 482-490.

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