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. 1991 Dec;54(12):1073–1076. doi: 10.1136/jnnp.54.12.1073

Epilepsy in a mitochondrial disorder.

T Torbergsen 1, E Mathiesen 1, J Aasly 1
PMCID: PMC1014682  PMID: 1783920

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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