A Novel WDR45 Mutation in a 9-Month-Old Male Infant with Epileptic Spasms
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference4 articles.
1. Epileptic spasms: A previously unreported manifestation of WDR45 gene mutation;Xixis;Epileptic Disord,2015
2. Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature;Takano;Am J Med Genet A,2016
3. Early manifestations of BPAN in a pediatric patient;Okamoto;Am J Med Genet A,2014
4. The autophagy gene wdr45/Wipi4 regulates learning and memory function and axonal homeostasis;Zhao;Autophagy,2015
Cited by 4 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. A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN);Heliyon;2024-05
2. Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts;International Journal of Molecular Sciences;2021-10-28
3. Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration;Developmental Medicine & Child Neurology;2021-08-04
4. WDR45 Gene and Its Role in Pediatric Epilepsies;Journal of Pediatric Neurology;2021-04-13
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