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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 83 Issue: 23
  • Publication Date: 2014
  • Doi Number: 10.1212/wnl.0000000000001055
  • Journal Name: NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2183-2187
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

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.