Global Variome shared LOVD

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Phenotype #0000257422 Individual ID 00334932 Associated disease PEBEL1 Diagnosis/Initial progressive myoclonus epilepsy , developmental delay Diagnosis/Definite - Phenotype details 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. Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2021-04-14 09:14:49 +02:00 (CEST) Date last edited N/A

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