Back Donate
Donate
Default image for pages

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.

LB, King MD, LaSalle B, leventer RJ, Lewelt AJ, Massart MB, Merida MR 2nd, Ptacke LJ, Roach JC, Rust RS, Renault F, Stanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. “Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.” PLos ONE, (May 21, 2015).

Ragona F, Castellotti B, Salis B, Magri S and others. “Alternating Hemiplegia and Epilepsia Partialis Continua: a New Phenotype for a Novel Compound TBC1D24 Mutation.” Seizure (March 6, 2017).

Vuillaumier-Barrot, S., Panagiotakaki, E., Le Bizec, C., and others. “Absence of Mutation in the SLC2A1 Gene in a Cohort of Patients with Alternating Hemiplegia of Childhood.” Neuropediatrics 41, no.6 (December 2010): 267-269.

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.