Epilepsy in a mitochondrial disorder.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1783920.
- Also identified by PMC identifier 1014682.
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Abstract
In a large family with maternally inherited mitochondrial disease, a mild defect in the NADH-ubiquinone oxidoreductase step (complex 1) in the respiratory chain was found. Epilepsy was seen in nine (22%) of the 37 family members. Five of them, belonging to one branch of the family, had myoclonus epilepsy and EEG abnormalities consistent with this. The remaining four patients, belonging to other branches of the family tree, had partial epilepsy. Neurological symptoms also varied in different parts of the family. Possible explanations for the differences in phenotypic expressions are discussed.
Medical subject headings
- Epilepsies, Myoclonic
- Epilepsies, Partial
- Mitochondria, Muscle
- Neuromuscular Diseases