Catastrophic Epilepsy of Infancy. Diagnostic Considerations in Progressive Myoclonic Epilepsy. Motivation. 12 month old with myoclonic seizures. Neonate Infancy Childhood Adolescence Adult Elderly. Evaluation of a Paroxysmal Event. Is the paroxysmal event a seizure?. Syncope
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Diagnostic Considerations in Progressive Myoclonic Epilepsy
(boundaries of this category are not clear cut)
Catastrophic Epilepsy in Childhood
Normal early development
RRF (ragged red fibers)
Hirano & DiMauro 1996MERRF - Features
Are often used in hopes of improving mitochondrial function.
The product of peroxidation of unsaturated fatty acids and symptomatic, perhaps, of membrane damage rather than being deleterious in its own right
Lafora bodies in the brain.
inclusions. H&E Stain
Lafora bodies are present throughout the nervous system, particularly in the dentate nucleus, red nucleus, substantia nigra, and hippocampus.
stop codon (nonsense)
unreported missense intron?
upstream regulatory region?
known genetic polymorphism