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.

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, et al. “Mosaicism in ATP1A3-Related Disorders: Not Just a Theoretical Risk.” Neurogenetics (October 10, 2016).

Ikeda K, et al. “Enhanced Inhibitory Neurotransmission in the Cerebellar Cortex of the Atp1a3-deficient Heterozygous Mice.” J Physiol. (May 13, 2013).

Inui T, Saito Y, Sakuma H, et al. “Profiles of Blood Biomarkers in Alternating Hemiplegia of Childhood—Increased MMP-9 and Decreased Substance P Indicates its Pathophysiology.” Brain & Development 34, no. 3, (March 2012): 196-200.

Ishi A, Saito Y, Mitsui J, et al. “Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients.” PLos ONE 8, no. 2, (February 2013).

Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. “Mutation in the Glutamate Transporter EAAT1 Causes Episodic Ataxia, Hemiplegia, and Seizures.” Neurology.65, no.4 (August 23, 2005): 529-534.