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Article

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

Neurology - 2 Dec 2014

Hallmann Kerstin, Zsurka Gábor, Moskau-Hartmann Susanna, Kirschner Janbernd, Korinthenberg Rudolf, Ruppert Ann-Kathrin, Ozdemir Ozkan, Weber Yvonne, Becker Felicitas, Lerche Holger, Elger Christian E, Thiele Holger, Nürnberg Peter, Sander Thomas, Kunz Wolfram S

Abstract excerpt

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,...

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Share to Amino Acyl-tRNA Synthetases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Myoclonic

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Source

Identifiers

PMID: 25361775
DOI: 10.1212/WNL.0000000000001055

Genes

CARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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