Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

Cordani R, Pisciotta L, Mancardi MM, Stagnaro M, Prato G, Giacomini T, Morana G, Walsh P, Ghia T, Nobili L, De Grandis E. Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review. Neuropediatrics. 2022 Feb;53(1):69-74. Fulltext: https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0041-1739132

Li M, Jazayeri D, Corry B, Melodi McSweeney K, Heinzen E, Goldstein D, Petrou S. “A Functional Correlate of Severity in Alternating Hemiplegia of Childhood.” Neurobiology of Disease (February 12, 2015).

Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K. “Functional Studies and Proteomics in Platelets and Fibroblasts Reveal a Lysosomal Defect with Increased Cathepsin-dependent Apoptosis in ATP1A3 Defective Alternating Hemiplegia of Childhood.” Journal of Proteomics (May 13, 2013).

Li SP, Zhang YH, Yang XL, Chen JY, Zeng Q, Zhang J, Wu XR. “Genotype-phenotype Correlation in Patients with Alternating Hemiplegia of Childhood.” Zhonghua Er Ke Za Zhi (Chinese). 2018 Nov 2; 56(11): 811-817. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30392204

De Vries B, Haan J, Stam AH, Vanmolkot KR, Stoink H, Laan LA, Gill DS, Pascual J, Frants RR, van den Maagdenberg AM, Ferrari MD. “Alternating Hemiplegia of Childhood: No Mutations in the Glutamate Transporter EAAT1.” Neuropediatrics (October 2006): 302-304.
Doganli C, et al. “a3Na+/K+-ATPase Deficiency Causes Brain Ventricle Dilation and Abrupt Embryonic Motility in Zebrafish.” J Biol Chem. 288 no. 13 (March 29, 2013): 8862-74.

Duan BC, Wong LC, Lee WT. “Alternating Hemiplegia and Paroxysmal Torticollis Caused by SCN4A Mutation: A New Phenotype?” Neurology. 2019 Oct 8;93(15):673-674. No abstract.

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Johannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B, ATP1A3 Working Group. “Distinct Neurological Disorders with ATP1A3 Mutations.” Lancet Neurol. 13, no. 5 (May 2014): 503-14.

Heinzen E, Swoboda K, Hitomi Y, et al. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Nature Genetics 44, no.9 (September 2012): 1030-1034.

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).