All individuals with variants in gene APOA1BP

3 entries on 1 page. Showing entries 1 - 3.
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Owner     
00274148 Pat12 PubMed: Pronicka 2016 - M - Poland - - - - - ? deceased; mitochondrial disease criteria score 3; muscle biopsy from autopsy 2 1 Johan den Dunnen
00307957 12DG2311 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Seizures, Developmental regression, Dystonia, Ataxia 1 1 Johan den Dunnen
00334932 PME5 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - PEBEL1 Onset age 12 of versive motor seizures on background of developmental delay (at onset EEGs were suggestive of Lafora or mitochondrial disease, as they showed bi-occipital spiking that was suppressed by eye opening, generalized spikes and strong photosensitivity). Absence seizures from 13 years, daily myoclonus from 15 years. Occasional TCS. Slowly progressive severe ataxia, Dementia. Abnormal eye movements, hyper-reflexia, bilateral Hoffman's and Babinski reflexes, mild extrapyramidal signs. Brain MRI as well as muscle and skin biopsy were unremarkable. Death at 26 years due to refractory myoclonic status. 1 1 Carolina Courage
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