TY  - GEN
AU  - Hallmann,Kerstin
AU  - Zsurka,Gábor
AU  - Moskau-Hartmann,Susanna
AU  - Kirschner,Janbernd
AU  - Korinthenberg,Rudolf
AU  - Ruppert,Ann-Kathrin
AU  - Ozdemir,Ozkan
AU  - Weber,Yvonne
AU  - Becker,Felicitas
AU  - Lerche,Holger
AU  - Elger,Christian E
AU  - Thiele,Holger
AU  - Nürnberg,Peter
AU  - Sander,Thomas
AU  - Kunz,Wolfram S
TI  - A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
SN  - 1526-632X
PY  - 2015///0310
KW  - Adult
KW  - Amino Acyl-tRNA Synthetases
KW  - genetics
KW  - DNA, Mitochondrial
KW  - Epilepsies, Myoclonic
KW  - etiology
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - MERRF Syndrome
KW  - complications
KW  - Male
KW  - Mitochondria
KW  - Mutation
KW  - Pedigree
KW  - RNA Splicing
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/WNL.0000000000001055
ER  -