A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.

@article{Hallmann2014AHS,
  title={A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.},
  author={Kerstin Hallmann and G{\'a}bor Zsurka and Susanna Moskau-Hartmann and Janbernd Kirschner and Rudolf Korinthenberg and Ann-Kathrin Ruppert and Ozkan Ozdemir and Yuki Weber and Felicitas Becker and Holger Lerche and Christian Erich Elger and Holger Thiele and Peter N{\"u}rnberg and Thomas Sander and Wolfram S Kunz},
  journal={Neurology},
  year={2014},
  volume={83 23},
  pages={2183-7}
}
OBJECTIVE We report a consanguineous family with 2 affected individuals whose clinical symptoms closely resembled MERRF (myoclonus epilepsy with ragged red fibers) syndrome including severe myoclonic epilepsy, progressive spastic tetraparesis, progressive impairment of vision and hearing, as well as progressive cognitive decline. METHODS After excluding the presence of pathogenic mitochondrial DNA mutations, whole-exome sequencing of blood DNA from the index patient was performed. Detected… CONTINUE READING
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