Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

@article{Zsurka2010SevereEA,
  title={Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.},
  author={G{\'a}bor Zsurka and K. Georg Hampel and Ibigbami Nelson and Claude Jardel and Sandra R. Mirandola and Regine Sa\ssen and Cornelia Kornblum and Pascale Marcorelles and S{\'e}bastien Lavou{\'e} and Anne Lombes and Wolfram S Kunz},
  journal={Neurology},
  year={2010},
  volume={74 6},
  pages={507-12}
}
OBJECTIVE To present 2 families with maternally inherited severe epilepsy as the main symptom of mitochondrial disease due to point mutations at position 616 in the mitochondrial tRNA(Phe) (MT-TF) gene. METHODS Histologic stainings were performed on skeletal muscle slices from the 2 index patients. Oxidative phosphorylation activity was measured by… CONTINUE READING