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A case of mitochondrial and peroxisome fission deficiency-related encephalopathy caused by DNM1L gene mutation / 中华神经科杂志
Chinese Journal of Neurology ; (12): 74-79, 2024.
Article in Zh | WPRIM | ID: wpr-1029176
Responsible library: WPRO
ABSTRACT
Mitochondrial and peroxisome fission deficiency-related encephalopathy caused by DNM1L gene mutation is a rare and fatal epileptic encephalopathy, with clinical phenotype and genetic heterogeneity. The acute stage is drug-resistant epilepsy with poor prognosis and serious neurological sequelae. A case of genetically confirmed encephalopathy related to mitochondrial and peroxisome fission defects is reported, the clinical data, treatment process are summarized, and the previous literature is reviewed to improve the understanding of the rare disease.
Key words
Full text: 1 Index: WPRIM Language: Zh Journal: Chinese Journal of Neurology Year: 2024 Type: Article
Full text: 1 Index: WPRIM Language: Zh Journal: Chinese Journal of Neurology Year: 2024 Type: Article