Status Epilepticus in Coenzyme A Synthase Protein-Associated Neurodegeneration - Expanding the Clinical Phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-023-04515-x.pdf
Reference4 articles.
1. Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 2015;8:1–13.
2. Annesi G, Gagliardi M, Iannello G, Quattrone A. Mutational analysis of COASY in an Italian patient with NBIA. Parkinsonism Relat Disord. 2016;28:150–1.
3. Dusi S, Valletta L, Haack TB, et al. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet. 2014;94:11–22.
4. Evers C, Seitz A, Assmann B, et al. Diagnosis of CoPAN by whole exome sequencing: waking up a sleeping tiger’s eye. Am J Med Genet A. 2017;173:1878–86.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. CoA synthase plays a critical role in neurodevelopment and neurodegeneration;Frontiers in Cellular Neuroscience;2024-09-05
2. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases;Annals of Clinical and Translational Neurology;2024-05-15
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