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

Hallmann, Kerstin; Zsurka, Gabor; Moskau-Hartmann, Susanna; Kirschner, Janbernd; Korinthenberg, Rudolf; Ruppert, Ann-Kathrin; Ozdemir, ÖZKAN; Weber, Yvonne; Becker, Felicitas; Lerche, Holger; Elger, Christian; Thiele, Holger; Nuernberg, Peter; Sander, Thomas; Kunz, Wolfram

doi:10.1212/wnl.0000000000001055

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, Scopus)

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.