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

Neurology

Volumn 83, Issue 23, 2014, Pages 2183-2187

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

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e ISTANBUL UNIVERSITY   (Turkey)

^f UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MESSENGER RNA; TRANSFER RNA; AMINO ACID TRANSFER RNA LIGASE; CYSTEINYL-TRNA SYNTHETASE 2 PROTEIN, HUMAN; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CARS2 GENE; CASE REPORT; CONSANGUINITY; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEGREGATION; HOMOZYGOSITY; HUMAN; MALE; MERRF SYNDROME; MYOCLONUS EPILEPSY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; SYMPTOMATOLOGY; COMPLICATION; EPILEPSIES, MYOCLONIC; GENETICS; HOMOZYGOTE; MITOCHONDRION; MUTATION; PEDIGREE; YOUNG ADULT;

ADULT; AMINO ACYL-TRNA SYNTHETASES; DNA, MITOCHONDRIAL; EPILEPSIES, MYOCLONIC; FEMALE; HOMOZYGOTE; HUMANS; MALE; MERRF SYNDROME; MITOCHONDRIA; MUTATION; PEDIGREE; RNA SPLICING; YOUNG ADULT;

EID: 84923544705     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001055     Document Type: Article

References (10)

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