| pubmed-article:19734009 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19734009 | lifeskim:mentions | umls-concept:C1273518 | lld:lifeskim |
| pubmed-article:19734009 | lifeskim:mentions | umls-concept:C1425272 | lld:lifeskim |
| pubmed-article:19734009 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:19734009 | lifeskim:mentions | umls-concept:C0751122 | lld:lifeskim |
| pubmed-article:19734009 | lifeskim:mentions | umls-concept:C1843571 | lld:lifeskim |
| pubmed-article:19734009 | lifeskim:mentions | umls-concept:C1850419 | lld:lifeskim |
| pubmed-article:19734009 | lifeskim:mentions | umls-concept:C1970036 | lld:lifeskim |
| pubmed-article:19734009 | lifeskim:mentions | umls-concept:C1420484 | lld:lifeskim |
| pubmed-article:19734009 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:19734009 | pubmed:dateCreated | 2009-11-5 | lld:pubmed |
| pubmed-article:19734009 | pubmed:abstractText | Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS) is a distinctive epilepsy syndrome often associated with de novo mutations in the SCN1A gene. However, 25-30% patients with SMEI/DS are negative for SCN1A mutation screening, suggesting that other molecular mechanisms may account for these disorders. Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may be associated with early onset seizures forms of SMEI/DS. | lld:pubmed |
| pubmed-article:19734009 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19734009 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19734009 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19734009 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19734009 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19734009 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19734009 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19734009 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19734009 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19734009 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:19734009 | pubmed:issn | 1872-6844 | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:DulacOlivierO | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:HéronDelphine... | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:ChellyJamelJ | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:BienvenuThier... | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:BeldjordCheri... | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:GirardBenoitB | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:NabboutRimaR | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:TrouillardOri... | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:LeguernEricE | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:SouvilleIsabe... | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:Bahi-BuissonN... | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:DepienneChris... | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:AfenjarAlexan... | lld:pubmed |
| pubmed-article:19734009 | pubmed:author | pubmed-author:ChipauxMathil... | lld:pubmed |
| pubmed-article:19734009 | pubmed:copyrightInfo | 2009 Elsevier B.V. All rights reserved. | lld:pubmed |
| pubmed-article:19734009 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19734009 | pubmed:volume | 87 | lld:pubmed |
| pubmed-article:19734009 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19734009 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19734009 | pubmed:pagination | 25-30 | lld:pubmed |
| pubmed-article:19734009 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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| pubmed-article:19734009 | pubmed:meshHeading | pubmed-meshheading:19734009... | lld:pubmed |
| pubmed-article:19734009 | pubmed:meshHeading | pubmed-meshheading:19734009... | lld:pubmed |
| pubmed-article:19734009 | pubmed:meshHeading | pubmed-meshheading:19734009... | lld:pubmed |
| pubmed-article:19734009 | pubmed:meshHeading | pubmed-meshheading:19734009... | lld:pubmed |
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| pubmed-article:19734009 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19734009 | pubmed:articleTitle | CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. | lld:pubmed |
| pubmed-article:19734009 | pubmed:affiliation | Service de Neurologie Pediatrique, hôpital Necker Enfants Malades, APHP, Université Paris Descartes, Paris, France. | lld:pubmed |
| pubmed-article:19734009 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19734009 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19734009 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19734009 | lld:entrezgene |
