Early onset seizures and Rett-like features associated with mutations in CDKL5
- Author
- EVANS, Julie C1 ; ARCHER, Hayley L1 ; WRIGHT, Michael J8 ; PILZ, Daniela T1 ; LAZAROU, Lazarus1 ; COOPER, David N1 ; SAMPSON, Julian R1 ; BUTLER, Rachel1 ; WHATLEY, Sharon D9 ; CLARKE, Angus J1 ; COLLEY, James P1 ; RAVN, Kirstine2 ; NIELSEN, Jytte Bieber3 ; KERR, Alison4 ; WILLIAMS, Elizabeth1 ; CHRISTODOULOU, John5 ; GECZ, Jozef6 ; JARDINE, Philip E7
[1] Department of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom
[2] Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark
[3] The John F Kennedy Institute, Glostrup, Denmark
[4] Department of Psychological Medicine, University of Glasgow, Glasgow, United Kingdom
[5] Western Sydney Genetics Program, The Children's Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
[6] Department of Genetic Medicine, Women's and Children's Hospital and Department of Paediatrics, University of Adelaide, Adelaide, Australia
[7] Department of Neurology, Bristol Royal Hospital for Sick Children, Bristol, United Kingdom
[8] Institute of Human Genetics, International Centre for Life, Newcastle Upon Tyne, United Kingdom
[9] Department of Medical Biochemistry, Cardiff University, Heath Park, Cardiff, United Kingdom - Source
European journal of human genetics. 2005, Vol 13, Num 10, pp 1113-1120, 8 p ; ref : 15 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- ARX CDKL5 ISSX Rett STK9 West syndrome epilepsy
- Keyword (fr)
- Association Epilepsie Génétique Mutation Précoce Spasme en flexion Encéphale pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Association Epilepsy Genetics Mutation Early West syndrome Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Asociación Epilepsia Genética Mutación Precoz Espasmo en flexión Encéfalo patología Sistema nervosio central patología Sistema nervioso 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 / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Medical genetics Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17154279
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
10.1038/sj.ejhg.5201451 
https://dx.doi.org/10.1038/sj.ejhg.5201451
"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:23:\"10.1038\/sj.ejhg.5201451\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:2:\"13\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1113\";s:8:\"\u0000*\u0000epage\";s:4:\"1120\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"EVANS\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Julie C\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:17:{i:0;s:16:\"ARCHER, Hayley L\";i:1;s:17:\"WRIGHT, Michael J\";i:2;s:15:\"PILZ, Daniela T\";i:3;s:16:\"LAZAROU, Lazarus\";i:4;s:15:\"COOPER, David N\";i:5;s:17:\"SAMPSON, Julian R\";i:6;s:14:\"BUTLER, Rachel\";i:7;s:17:\"WHATLEY, Sharon D\";i:8;s:15:\"CLARKE, Angus J\";i:9;s:15:\"COLLEY, James P\";i:10;s:14:\"RAVN, Kirstine\";i:11;s:21:\"NIELSEN, Jytte Bieber\";i:12;s:12:\"KERR, Alison\";i:13;s:19:\"WILLIAMS, Elizabeth\";i:14;s:19:\"CHRISTODOULOU, John\";i:15;s:11:\"GECZ, Jozef\";i:16;s:17:\"JARDINE, Philip E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:8:\"\u0000*\u0000place\";s:10:\"Avenel, NJ\";s:6:\"\u0000*\u0000pub\";s:17:\"Nature Publishing\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";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:23:\"10.1038\/sj.ejhg.5201451\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:2:\"13\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1113\";s:8:\"\u0000*\u0000epage\";s:4:\"1120\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"EVANS\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Julie C\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:17:{i:0;s:16:\"ARCHER, Hayley L\";i:1;s:17:\"WRIGHT, Michael J\";i:2;s:15:\"PILZ, Daniela T\";i:3;s:16:\"LAZAROU, Lazarus\";i:4;s:15:\"COOPER, David N\";i:5;s:17:\"SAMPSON, Julian R\";i:6;s:14:\"BUTLER, Rachel\";i:7;s:17:\"WHATLEY, Sharon D\";i:8;s:15:\"CLARKE, Angus J\";i:9;s:15:\"COLLEY, James P\";i:10;s:14:\"RAVN, Kirstine\";i:11;s:21:\"NIELSEN, Jytte Bieber\";i:12;s:12:\"KERR, Alison\";i:13;s:19:\"WILLIAMS, Elizabeth\";i:14;s:19:\"CHRISTODOULOU, John\";i:15;s:11:\"GECZ, Jozef\";i:16;s:17:\"JARDINE, Philip E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:8:\"\u0000*\u0000place\";s:10:\"Avenel, NJ\";s:6:\"\u0000*\u0000pub\";s:17:\"Nature Publishing\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";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:23:\"10.1038\/sj.ejhg.5201451\";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:23:\"10.1038\/sj.ejhg.5201451\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:2:\"13\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1113\";s:8:\"\u0000*\u0000epage\";s:4:\"1120\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"EVANS\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Julie C\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:17:{i:0;s:16:\"ARCHER, Hayley L\";i:1;s:17:\"WRIGHT, Michael J\";i:2;s:15:\"PILZ, Daniela T\";i:3;s:16:\"LAZAROU, Lazarus\";i:4;s:15:\"COOPER, David N\";i:5;s:17:\"SAMPSON, Julian R\";i:6;s:14:\"BUTLER, Rachel\";i:7;s:17:\"WHATLEY, Sharon D\";i:8;s:15:\"CLARKE, Angus J\";i:9;s:15:\"COLLEY, James P\";i:10;s:14:\"RAVN, Kirstine\";i:11;s:21:\"NIELSEN, Jytte Bieber\";i:12;s:12:\"KERR, Alison\";i:13;s:19:\"WILLIAMS, Elizabeth\";i:14;s:19:\"CHRISTODOULOU, John\";i:15;s:11:\"GECZ, Jozef\";i:16;s:17:\"JARDINE, Philip E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:8:\"\u0000*\u0000place\";s:10:\"Avenel, NJ\";s:6:\"\u0000*\u0000pub\";s:17:\"Nature Publishing\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";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:23:\"10.1038\/sj.ejhg.5201451\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:2:\"13\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1113\";s:8:\"\u0000*\u0000epage\";s:4:\"1120\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"EVANS\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Julie C\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:17:{i:0;s:16:\"ARCHER, Hayley L\";i:1;s:17:\"WRIGHT, Michael J\";i:2;s:15:\"PILZ, Daniela T\";i:3;s:16:\"LAZAROU, Lazarus\";i:4;s:15:\"COOPER, David N\";i:5;s:17:\"SAMPSON, Julian R\";i:6;s:14:\"BUTLER, Rachel\";i:7;s:17:\"WHATLEY, Sharon D\";i:8;s:15:\"CLARKE, Angus J\";i:9;s:15:\"COLLEY, James P\";i:10;s:14:\"RAVN, Kirstine\";i:11;s:21:\"NIELSEN, Jytte Bieber\";i:12;s:12:\"KERR, Alison\";i:13;s:19:\"WILLIAMS, Elizabeth\";i:14;s:19:\"CHRISTODOULOU, John\";i:15;s:11:\"GECZ, Jozef\";i:16;s:17:\"JARDINE, Philip E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:8:\"\u0000*\u0000place\";s:10:\"Avenel, NJ\";s:6:\"\u0000*\u0000pub\";s:17:\"Nature Publishing\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";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:23:\"10.1038\/sj.ejhg.5201451\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:9:\"\u0000*\u0000jtitle\";s:34:\"European journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:18:\"Eur. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2005\";s:9:\"\u0000*\u0000volume\";s:2:\"13\";s:8:\"\u0000*\u0000issue\";s:2:\"10\";s:8:\"\u0000*\u0000spage\";s:4:\"1113\";s:8:\"\u0000*\u0000epage\";s:4:\"1120\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1018-4813\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"EVANS\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Julie C\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:17:{i:0;s:16:\"ARCHER, Hayley L\";i:1;s:17:\"WRIGHT, Michael J\";i:2;s:15:\"PILZ, Daniela T\";i:3;s:16:\"LAZAROU, Lazarus\";i:4;s:15:\"COOPER, David N\";i:5;s:17:\"SAMPSON, Julian R\";i:6;s:14:\"BUTLER, Rachel\";i:7;s:17:\"WHATLEY, Sharon D\";i:8;s:15:\"CLARKE, Angus J\";i:9;s:15:\"COLLEY, James P\";i:10;s:14:\"RAVN, Kirstine\";i:11;s:21:\"NIELSEN, Jytte Bieber\";i:12;s:12:\"KERR, Alison\";i:13;s:19:\"WILLIAMS, Elizabeth\";i:14;s:19:\"CHRISTODOULOU, John\";i:15;s:11:\"GECZ, Jozef\";i:16;s:17:\"JARDINE, Philip E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:78:\"Early onset seizures and Rett-like features associated with mutations in CDKL5\";s:8:\"\u0000*\u0000place\";s:10:\"Avenel, NJ\";s:6:\"\u0000*\u0000pub\";s:17:\"Nature Publishing\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";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
