Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference23 articles.
1. Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes;Harel;Am J Hum Genet,2016
2. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia;Cooper;Hum Mol Genet,2017
3. ATAD3, a vital membrane bound mitochondrial ATPase involved in tumor progression;Li;J Bioenerg Biomembr,2012
4. The AAA+ ATPase ATAD3A controls mitochondrial dynamics at the interface of the inner and outer membranes;Gilquin;Mol Cell Biol,2010
5. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes;Yap;Genome Med,2021
Cited by 3 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. Expanding the phenotype of Harel‐Yoon syndrome: A case report suggesting a genotype/phenotype correlation;American Journal of Medical Genetics Part A;2024-06-15
2. <italic>ATAD3A</italic> gene variations in a family with Harel-Yoon syndrome;Journal of Zhejiang University (Medical Sciences);2023-12-01
3. ATAD3A: A Key Regulator of Mitochondria-Associated Diseases;International Journal of Molecular Sciences;2023-08-07
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