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Astrocytic pathology in Alpers’ syndrome
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 hyperexcitabi...
Autores principales: | Smith, Laura A, Chen, Chun, Lax, Nichola Z, Taylor, Robert W, Erskine, Daniel, McFarland, Robert |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10230702/ https://www.ncbi.nlm.nih.gov/pubmed/37259148 http://dx.doi.org/10.1186/s40478-023-01579-w |
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