Intractable epilepsy in m.1630A>G carriers should be treated with a ketogenic diet on a trial basis.
作者信息
Finsterer Josef
机构信息
Department of Neurology, Neurology & Neurophysiology Center, Vienna, Austria.
出版信息
Transl Pediatr. 2025 Jun 27;14(6):1383-1384. doi: 10.21037/tp-2025-194. Epub 2025 Jun 25.
Abstract
摘要
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Intractable epilepsy in m.1630A>G carriers should be treated with a ketogenic diet on a trial basis.对于携带m.1630A>G突变的难治性癫痫患者，应试行生酮饮食治疗。
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本文引用的文献
1
A rare mutation, m.1630A>G, in the mitochondrial tRNAVal () gene in a child with epilepsy: case report and review of the literature.一名癫痫患儿线粒体tRNAVal（）基因中的罕见突变m.1630A>G：病例报告及文献复习
Transl Pediatr. 2025 Feb 28;14(2):367-372. doi: 10.21037/tp-24-462. Epub 2025 Feb 25.
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The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort.多血统队列中线粒体 DNA 拷贝数的遗传和表型相关性。
HGG Adv. 2023 May 9;4(3):100202. doi: 10.1016/j.xhgg.2023.100202. eCollection 2023 Jul 13.
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Long-term ketogenic diet therapy improves mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): A case report.长期生酮饮食疗法改善伴乳酸性酸中毒和卒中样发作的线粒体脑肌病（MELAS）：一例报告
CNS Neurosci Ther. 2023 Sep;29(9):2717-2720. doi: 10.1111/cns.14274. Epub 2023 May 19.
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High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.高剂量口服补充谷氨酰胺可降低线粒体脑肌病、乳酸酸中毒和卒中样发作综合征患者脑脊液中升高的谷氨酸水平。
Eur J Neurol. 2023 Feb;30(2):538-547. doi: 10.1111/ene.15626. Epub 2022 Nov 18.
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J Neurol Sci. 2016 Mar 15;362:309-13. doi: 10.1016/j.jns.2016.02.008. Epub 2016 Feb 4.
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Multisystem manifestations of mitochondrial disorders.线粒体疾病的多系统表现。
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