The Expanding Spectrum of Neurological Phenotypes in Children with ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

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Ulate-Campos A, Fons C, Arthuc R, Castejon E, Martorell L, Ozelius L, Pascual J, Campistol J. “Alternating Hemiplegia of Childhood with a De Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to Ketogenic Diet.” Pediatr Neurol (April 2014): 377-379.

Vila-Pueyo M, Pons R, Raspall-Chaure M, Marcė-Grau A, Carreńno O, Sintas C, Cormand B, Pineda-Marfá M, Macaya A. “Clinical and Genetic Analysis in Alternating Hemiplegia of Childhood: Ten New Patients from Southern Europe.” J Neurol Sci. 344, no.1–2 (2014): 37–42.

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.
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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.