Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutation
- 8 October 1998
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 44 (4), 700-704
- https://doi.org/10.1002/ana.410440420
Abstract
Epilepsia partialis continua (EPC) is a rare epileptic syndrome characterized by continuous focal seizures. We report on a 16‐year‐old girl who died of prolonged pharmacoresistant EPC in whom we identified a 7472insC mutation within the mitochondrial transfer ribonucleic acid (tRNA)Ser(UCN). Additional symptoms included ataxia, lactic acidosis, myopathy, sensorineural hearing loss, severe headaches, and mental retardation. Quantification revealed 100% mutant mitochondrial DNA (mtDNA) in the patient, 4% in her mother, and none in her half‐sister. This highly skewed mtDNA distribution is most improbable (∼3 × 10−30) if only explained by random genetic drift. Clustering of dysfunctional mitochondria and replicatory advantage of mutant mtDNA may play a role in the rapid segregation towards homoplasmy within one generation.Keywords
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