Astrocytic pathology in Alpers’ syndrome

Abstract Refractory epilepsy is the main neurological manifestation of Alpers’ syndrome, a severe childhood-onset mitochondrial disease caused by bi-allelic pathogenic variants in the mitochondrial DNA (mtDNA) polymerase gamma gene (POLG). The pathophysiological mechanisms underpinning neuronal hype...

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发表在:	Acta Neuropathologica Communications
Main Authors:	Laura A Smith, Chun Chen, Nichola Z Lax, Robert W Taylor, Daniel Erskine, Robert McFarland
格式:	文件
语言:	英语
出版:	BMC 2023-05-01
主题:	Alpers’ syndrome POLG Mitochondrial Epilepsy Reactive astrogliosis GFAP Kir4.1
在线阅读:	https://doi.org/10.1186/s40478-023-01579-w