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• W3152990534 abstract "Abstract Objective . ADCK3‐related disease is a mitochondrial disorder associated with an abnormality of coenzyme Q 10 metabolism. Ataxia and epilepsy are common, and the phenotype overlaps with other mitochondrial encephalopathies, particularly POLG‐related disease. CoQ 10 supplementation may be beneficial. We have noted a remarkable epileptiform pattern in ADCK3‐related encephalopathy, and since EEG studies in this rare condition are limited, we wished to assess the evolution of EEG characteristics in patients with this disorder. Methods . All EEG recordings of the four known patients from Mid‐Norway were systematically reviewed. EEG graphoelements were classified according to the standardized computer‐based organized reporting of EEG (SCORE) and international glossary terms. The evolution of EEG features was assessed. A total of 96 recordings spanning over 15–32 years were available, with a mean of 24 per patient (range: 17–28). Altogether, 50 digital recordings were reviewed, including four long‐term and 46 selected paper segments. Results . In three patients, EEG showed prominent bilateral asynchronous and synchronous epileptiform discharges in occipital and posterior‐temporal regions. This intense activity included multiple epileptiform graphoelements, which occurred continuously, nearly continuously or in prolonged runs. The findings remained stable over many years. Significance . Although the number of patients is small, we suggest that interictal EEG findings of continuous/nearly continuous bi‐occipital spike‐waves may serve as a biomarker for this potentially treatable condition. This peculiar EEG pattern might help to differentiate ADCK3‐related disease from the more common POLG‐related disease, which is usually characterized by lateralized or focal slowing with more sporadic epileptiform elements of similar topography." @default.
• W3152990534 created "2021-04-26" @default.
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• W3152990534 date "2021-04-01" @default.
• W3152990534 modified "2023-10-17" @default.
• W3152990534 title "A characteristic occipital epileptiform EEG pattern in ADCK3‐related mitochondrial disease" @default.
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• W3152990534 doi "https://doi.org/10.1684/epd.2021.1269" @default.
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