A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
- Author
- HALLMANN, Kerstin1 ; ZSURKA, Gábor1 ; ELGER, Christian E1 ; THIELE, Holger3 ; NÜRNBERG, Peter3 4 5 ; SANDER, Thomas3 ; KUNZ, Wolfram S1 ; MOSKAU-HARTMANN, Susanna1 ; KIRSCHNER, Janbernd2 ; KORINTHENBERG, Rudolf2 ; RUPPERT, Ann-Kathrin3 ; OZDEMIR, Ozkan6 ; WEBER, Yvonne7 ; BECKER, Felicitas7 ; LERCHE, Holger7
[1] Department of Epileptology and Life & Brain Center, University of Bonn, Germany
[2] Department of Neuropediatrics and Muscle Disorders, University of Freiburg, Germany
[3] Cologne Center for Genomics, University of Cologne, Germany
[4] Center for Molecular Medicine Cologne, University of Cologne, Germany
[5] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Germany
[6] Genetic Department, Institute of Experimental Medicine (DETAE), Istanbul University, Turkey
[7] Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany - Source
Neurology. 2014, Vol 83, Num 23, pp 2183-2187, 5 p ; ref : 10 ref
- Publisher
- Lippincott Williams & Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Epilepsie Epissage Epissure Homozygotie Mutation Pathologie du système nerveux Pathologie de l'encéphale Pathologie du système nerveux central
- Keyword (en)
- Epilepsy Splicing Splice Homozygosity Mutation Nervous system diseases Cerebral disorder Central nervous system disease
- Keyword (es)
- Epilepsia Empalme Punto empalme Homocigosis Mutación Sistema nervioso patología Encéfalo patología Sistema nervosio central patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 29013817
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1212/WNL.0000000000001055 
https://dx.doi.org/10.1212/WNL.0000000000001055
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1212\/WNL.0000000000001055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:9:\"\u0000*\u0000jtitle\";s:9:\"Neurology\";s:9:\"\u0000*\u0000stitle\";s:9:\"Neurology\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:2:\"83\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2183\";s:8:\"\u0000*\u0000epage\";s:4:\"2187\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0028-3878\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"HALLMANN\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Kerstin\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:14:\"ZSURKA, G\u00e1bor\";i:1;s:18:\"ELGER, Christian E\";i:2;s:14:\"THIELE, Holger\";i:3;s:16:\"N\u00dcRNBERG, Peter\";i:4;s:14:\"SANDER, Thomas\";i:5;s:15:\"KUNZ, Wolfram S\";i:6;s:24:\"MOSKAU-HARTMANN, Susanna\";i:7;s:19:\"KIRSCHNER, Janbernd\";i:8;s:21:\"KORINTHENBERG, Rudolf\";i:9;s:20:\"RUPPERT, Ann-Kathrin\";i:10;s:14:\"OZDEMIR, Ozkan\";i:11;s:13:\"WEBER, Yvonne\";i:12;s:17:\"BECKER, Felicitas\";i:13;s:14:\"LERCHE, Holger\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NEURAI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:8:\"\u0000*\u0000place\";s:14:\"Hagerstown, MD\";s:6:\"\u0000*\u0000pub\";s:29:\"Lippincott Williams & Wilkins\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1212\/WNL.0000000000001055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:9:\"\u0000*\u0000jtitle\";s:9:\"Neurology\";s:9:\"\u0000*\u0000stitle\";s:9:\"Neurology\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:2:\"83\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2183\";s:8:\"\u0000*\u0000epage\";s:4:\"2187\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0028-3878\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"HALLMANN\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Kerstin\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:14:\"ZSURKA, G\u00e1bor\";i:1;s:18:\"ELGER, Christian E\";i:2;s:14:\"THIELE, Holger\";i:3;s:16:\"N\u00dcRNBERG, Peter\";i:4;s:14:\"SANDER, Thomas\";i:5;s:15:\"KUNZ, Wolfram S\";i:6;s:24:\"MOSKAU-HARTMANN, Susanna\";i:7;s:19:\"KIRSCHNER, Janbernd\";i:8;s:21:\"KORINTHENBERG, Rudolf\";i:9;s:20:\"RUPPERT, Ann-Kathrin\";i:10;s:14:\"OZDEMIR, Ozkan\";i:11;s:13:\"WEBER, Yvonne\";i:12;s:17:\"BECKER, Felicitas\";i:13;s:14:\"LERCHE, Holger\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NEURAI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:8:\"\u0000*\u0000place\";s:14:\"Hagerstown, MD\";s:6:\"\u0000*\u0000pub\";s:29:\"Lippincott Williams & Wilkins\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:28:\"10.1212\/WNL.0000000000001055\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1212\/WNL.0000000000001055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:9:\"\u0000*\u0000jtitle\";s:9:\"Neurology\";s:9:\"\u0000*\u0000stitle\";s:9:\"Neurology\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:2:\"83\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2183\";s:8:\"\u0000*\u0000epage\";s:4:\"2187\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0028-3878\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"HALLMANN\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Kerstin\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:14:\"ZSURKA, G\u00e1bor\";i:1;s:18:\"ELGER, Christian E\";i:2;s:14:\"THIELE, Holger\";i:3;s:16:\"N\u00dcRNBERG, Peter\";i:4;s:14:\"SANDER, Thomas\";i:5;s:15:\"KUNZ, Wolfram S\";i:6;s:24:\"MOSKAU-HARTMANN, Susanna\";i:7;s:19:\"KIRSCHNER, Janbernd\";i:8;s:21:\"KORINTHENBERG, Rudolf\";i:9;s:20:\"RUPPERT, Ann-Kathrin\";i:10;s:14:\"OZDEMIR, Ozkan\";i:11;s:13:\"WEBER, Yvonne\";i:12;s:17:\"BECKER, Felicitas\";i:13;s:14:\"LERCHE, Holger\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NEURAI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:8:\"\u0000*\u0000place\";s:14:\"Hagerstown, MD\";s:6:\"\u0000*\u0000pub\";s:29:\"Lippincott Williams & Wilkins\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1212\/WNL.0000000000001055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:9:\"\u0000*\u0000jtitle\";s:9:\"Neurology\";s:9:\"\u0000*\u0000stitle\";s:9:\"Neurology\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:2:\"83\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2183\";s:8:\"\u0000*\u0000epage\";s:4:\"2187\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0028-3878\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"HALLMANN\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Kerstin\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:14:\"ZSURKA, G\u00e1bor\";i:1;s:18:\"ELGER, Christian E\";i:2;s:14:\"THIELE, Holger\";i:3;s:16:\"N\u00dcRNBERG, Peter\";i:4;s:14:\"SANDER, Thomas\";i:5;s:15:\"KUNZ, Wolfram S\";i:6;s:24:\"MOSKAU-HARTMANN, Susanna\";i:7;s:19:\"KIRSCHNER, Janbernd\";i:8;s:21:\"KORINTHENBERG, Rudolf\";i:9;s:20:\"RUPPERT, Ann-Kathrin\";i:10;s:14:\"OZDEMIR, Ozkan\";i:11;s:13:\"WEBER, Yvonne\";i:12;s:17:\"BECKER, Felicitas\";i:13;s:14:\"LERCHE, Holger\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NEURAI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:8:\"\u0000*\u0000place\";s:14:\"Hagerstown, MD\";s:6:\"\u0000*\u0000pub\";s:29:\"Lippincott Williams & Wilkins\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1212\/WNL.0000000000001055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:9:\"\u0000*\u0000jtitle\";s:9:\"Neurology\";s:9:\"\u0000*\u0000stitle\";s:9:\"Neurology\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:2:\"83\";s:8:\"\u0000*\u0000issue\";s:2:\"23\";s:8:\"\u0000*\u0000spage\";s:4:\"2183\";s:8:\"\u0000*\u0000epage\";s:4:\"2187\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0028-3878\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"HALLMANN\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Kerstin\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:14:\"ZSURKA, G\u00e1bor\";i:1;s:18:\"ELGER, Christian E\";i:2;s:14:\"THIELE, Holger\";i:3;s:16:\"N\u00dcRNBERG, Peter\";i:4;s:14:\"SANDER, Thomas\";i:5;s:15:\"KUNZ, Wolfram S\";i:6;s:24:\"MOSKAU-HARTMANN, Susanna\";i:7;s:19:\"KIRSCHNER, Janbernd\";i:8;s:21:\"KORINTHENBERG, Rudolf\";i:9;s:20:\"RUPPERT, Ann-Kathrin\";i:10;s:14:\"OZDEMIR, Ozkan\";i:11;s:13:\"WEBER, Yvonne\";i:12;s:17:\"BECKER, Felicitas\";i:13;s:14:\"LERCHE, Holger\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NEURAI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:92:\"A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy\";s:8:\"\u0000*\u0000place\";s:14:\"Hagerstown, MD\";s:6:\"\u0000*\u0000pub\";s:29:\"Lippincott Williams & Wilkins\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"5\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
