Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
- Author
- GANESH, Subramaniam1 ; DELGADO-ESCUETA, Antonio V2 ; RASMUSSEN, Astrid6 ; THOMSON, Alfredo E4 ; OCHOA, Adriana6 ; PRADO, Aurelio J6 ; MEDINA, Marco T7 ; YAMAKAWA, Kazuhiro1 ; SUZUKI, Toshimitsu1 ; FRANCHESCHETTI, Silvana3 ; RIGGIO, Concetta3 ; AVANZINI, Giuiliano3 ; RABINOWICZ, Adrian4 ; BOHLEGA, Saeed5 ; BAILEY, Julia2 ; ALONSO, Maria E6
[1] Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako-shi, Japan
[2] Epilepsy Genetics/Genomics Laboratories, Comprehensive Epilepsy Program, UCLA School of Medicine and VA GLAHS West Los Angeles Medical Center, Los Angeles, CA, United States
[3] Instituto Nazionale Neurologico, Besta, Milano, Italy
[4] FLENI Medical Center, Buenos Aires, Argentina
[5] King Faisal Medical Center, Riyadh, Saudi Arabia
[6] National Institute of Neurology and Neurosurgery, Mexico City, Mexico
[7] Direccion de Investigation Cientifica, Universidad National Autonoma de Honguras, Tegulcigalpa, Honduras - Source
Human molecular genetics (Print). 2002, Vol 11, Num 11, pp 1263-1271 ; ref : 24 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Corrélation Epilepsie myoclonique familiale Unverricht Lundborg Exon Génotype Mutation Phénotype Précoce Typage Encéphale pathologie Maladie dégénérative Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Correlation Progressive myoclonus epilepsy Exon Genotype Mutation Phenotype Early Typing Cerebral disorder Degenerative disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Correlación Epilepsia mioclónica progresiva Exón Genotipo Mutación Fenotipo Precoz Tipificación Encéfalo patología Enfermedad degenerativa Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- Discipline
- Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14187186
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
10.1093/hmg/11.11.1263 
https://dx.doi.org/10.1093/hmg/11.11.1263
"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:22:\"10.1093\/hmg\/11.11.1263\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"11\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1263\";s:8:\"\u0000*\u0000epage\";s:4:\"1271\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"GANESH\";s:10:\"\u0000*\u0000aufirst\";s:11:\"Subramaniam\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:26:\"DELGADO-ESCUETA, Antonio V\";i:1;s:17:\"RASMUSSEN, Astrid\";i:2;s:18:\"THOMSON, Alfredo E\";i:3;s:14:\"OCHOA, Adriana\";i:4;s:16:\"PRADO, Aurelio J\";i:5;s:15:\"MEDINA, Marco T\";i:6;s:18:\"YAMAKAWA, Kazuhiro\";i:7;s:18:\"SUZUKI, Toshimitsu\";i:8;s:23:\"FRANCHESCHETTI, Silvana\";i:9;s:16:\"RIGGIO, Concetta\";i:10;s:19:\"AVANZINI, Giuiliano\";i:11;s:18:\"RABINOWICZ, Adrian\";i:12;s:14:\"BOHLEGA, Saeed\";i:13;s:13:\"BAILEY, Julia\";i:14;s:15:\"ALONSO, Maria 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:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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:22:\"10.1093\/hmg\/11.11.1263\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"11\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1263\";s:8:\"\u0000*\u0000epage\";s:4:\"1271\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"GANESH\";s:10:\"\u0000*\u0000aufirst\";s:11:\"Subramaniam\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:26:\"DELGADO-ESCUETA, Antonio V\";i:1;s:17:\"RASMUSSEN, Astrid\";i:2;s:18:\"THOMSON, Alfredo E\";i:3;s:14:\"OCHOA, Adriana\";i:4;s:16:\"PRADO, Aurelio J\";i:5;s:15:\"MEDINA, Marco T\";i:6;s:18:\"YAMAKAWA, Kazuhiro\";i:7;s:18:\"SUZUKI, Toshimitsu\";i:8;s:23:\"FRANCHESCHETTI, Silvana\";i:9;s:16:\"RIGGIO, Concetta\";i:10;s:19:\"AVANZINI, Giuiliano\";i:11;s:18:\"RABINOWICZ, Adrian\";i:12;s:14:\"BOHLEGA, Saeed\";i:13;s:13:\"BAILEY, Julia\";i:14;s:15:\"ALONSO, Maria 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:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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:22:\"10.1093\/hmg\/11.11.1263\";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:22:\"10.1093\/hmg\/11.11.1263\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"11\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1263\";s:8:\"\u0000*\u0000epage\";s:4:\"1271\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"GANESH\";s:10:\"\u0000*\u0000aufirst\";s:11:\"Subramaniam\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:26:\"DELGADO-ESCUETA, Antonio V\";i:1;s:17:\"RASMUSSEN, Astrid\";i:2;s:18:\"THOMSON, Alfredo E\";i:3;s:14:\"OCHOA, Adriana\";i:4;s:16:\"PRADO, Aurelio J\";i:5;s:15:\"MEDINA, Marco T\";i:6;s:18:\"YAMAKAWA, Kazuhiro\";i:7;s:18:\"SUZUKI, Toshimitsu\";i:8;s:23:\"FRANCHESCHETTI, Silvana\";i:9;s:16:\"RIGGIO, Concetta\";i:10;s:19:\"AVANZINI, Giuiliano\";i:11;s:18:\"RABINOWICZ, Adrian\";i:12;s:14:\"BOHLEGA, Saeed\";i:13;s:13:\"BAILEY, Julia\";i:14;s:15:\"ALONSO, Maria 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:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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:22:\"10.1093\/hmg\/11.11.1263\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"11\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1263\";s:8:\"\u0000*\u0000epage\";s:4:\"1271\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"GANESH\";s:10:\"\u0000*\u0000aufirst\";s:11:\"Subramaniam\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:26:\"DELGADO-ESCUETA, Antonio V\";i:1;s:17:\"RASMUSSEN, Astrid\";i:2;s:18:\"THOMSON, Alfredo E\";i:3;s:14:\"OCHOA, Adriana\";i:4;s:16:\"PRADO, Aurelio J\";i:5;s:15:\"MEDINA, Marco T\";i:6;s:18:\"YAMAKAWA, Kazuhiro\";i:7;s:18:\"SUZUKI, Toshimitsu\";i:8;s:23:\"FRANCHESCHETTI, Silvana\";i:9;s:16:\"RIGGIO, Concetta\";i:10;s:19:\"AVANZINI, Giuiliano\";i:11;s:18:\"RABINOWICZ, Adrian\";i:12;s:14:\"BOHLEGA, Saeed\";i:13;s:13:\"BAILEY, Julia\";i:14;s:15:\"ALONSO, Maria 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:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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:22:\"10.1093\/hmg\/11.11.1263\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"11\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1263\";s:8:\"\u0000*\u0000epage\";s:4:\"1271\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"GANESH\";s:10:\"\u0000*\u0000aufirst\";s:11:\"Subramaniam\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:26:\"DELGADO-ESCUETA, Antonio V\";i:1;s:17:\"RASMUSSEN, Astrid\";i:2;s:18:\"THOMSON, Alfredo E\";i:3;s:14:\"OCHOA, Adriana\";i:4;s:16:\"PRADO, Aurelio J\";i:5;s:15:\"MEDINA, Marco T\";i:6;s:18:\"YAMAKAWA, Kazuhiro\";i:7;s:18:\"SUZUKI, Toshimitsu\";i:8;s:23:\"FRANCHESCHETTI, Silvana\";i:9;s:16:\"RIGGIO, Concetta\";i:10;s:19:\"AVANZINI, Giuiliano\";i:11;s:18:\"RABINOWICZ, Adrian\";i:12;s:14:\"BOHLEGA, Saeed\";i:13;s:13:\"BAILEY, Julia\";i:14;s:15:\"ALONSO, Maria 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:173:\"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";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
