Back Donate
Donate
Default image for pages

Hoei-Hansen CE, Dali C, Lyngbye TJ, Duno M, Uldall P. “Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status.” European Journal of Paediatric Neurology (September 25, 2013).

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).

Holze N, Baalen AV, Stephani U, Helbig I, Muhle H. “Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.” Neuropediatrics. 2018 Oct; 49(5): 342-346. Abstract: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1653978

Bassi MT, Bresolin N, Tonelli A. “A Novel Mutation in the ATP1A2 Gene Causes Alternating Hemiplegia of Childhood.” Journal of Medical Genetics 41 (2004,): 621-628.

Incorpora G, Pavone P, Ruggieri M, Cocuzza M, Mazzone L, Parano E, Privitera M. “Neonatal Onset of Hot Water Reflex Seizures in Monozygotic Twins Subsequently Manifesting Episodes of Alternating Hemiplegia.” Epilepsy Research 78, no. 2-3 (February 2008): 225-231.

Bird TD. “Hereditary Ataxia Overview.” GeneReviews. 2019 Apr 18. Fulltext: https://www.ncbi.nlm.nih.gov/books/NBK1138/

Incecik F, Herguner OM. “Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy.” Journal of Neurosciences in Rural Practice Suppl 1 (December 2016): S130-S131.