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


Hallmann K., Zsurka G., Moskau-Hartmann S., Kirschner J., Korinthenberg R., Ruppert A., ...More

NEUROLOGY, vol.83, no.23, pp.2183-2187, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 83 Issue: 23
  • Publication Date: 2014
  • Doi Number: 10.1212/wnl.0000000000001055
  • Title of Journal : NEUROLOGY
  • Page Numbers: pp.2183-2187

Abstract

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.