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

Date
2014
Author
Kunz, Wolfram S.
Kirschner, Janbernd
Korinthenberg, Rudolf
Ruppert, Ann-Kathrin
Weber, Yvonne
Becker, Felicitas
Lerche, Holger
Elger, Christian E.
Thiele, Holger
Nuernberg, Peter
Sander, Thomas
Ozdemir, Ozkan
Hallmann, Kerstin
Zsurka, Gabor
Moskau-Hartmann, Susanna
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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.
URI
http://hdl.handle.net/20.500.12627/61164
https://doi.org/10.1212/wnl.0000000000001055
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