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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2009-11-5
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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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1872-6844
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pubmed:author |
pubmed-author:AfenjarAlexandraA,
pubmed-author:Bahi-BuissonNadiaN,
pubmed-author:BeldjordCherifC,
pubmed-author:BienvenuThierryT,
pubmed-author:ChellyJamelJ,
pubmed-author:ChipauxMathildeM,
pubmed-author:DepienneChristelC,
pubmed-author:DulacOlivierO,
pubmed-author:GirardBenoitB,
pubmed-author:HéronDelphineD,
pubmed-author:LeguernEricE,
pubmed-author:NabboutRimaR,
pubmed-author:SouvilleIsabelleI,
pubmed-author:TrouillardOrianeO
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pubmed:copyrightInfo |
2009 Elsevier B.V. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
87
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
25-30
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:19734009-Adolescent,
pubmed-meshheading:19734009-Child,
pubmed-meshheading:19734009-Child, Preschool,
pubmed-meshheading:19734009-Epilepsies, Myoclonic,
pubmed-meshheading:19734009-Female,
pubmed-meshheading:19734009-Genetic Predisposition to Disease,
pubmed-meshheading:19734009-Genotype,
pubmed-meshheading:19734009-Homeodomain Proteins,
pubmed-meshheading:19734009-Humans,
pubmed-meshheading:19734009-Intellectual Disability,
pubmed-meshheading:19734009-Male,
pubmed-meshheading:19734009-Mutation,
pubmed-meshheading:19734009-Phenotype,
pubmed-meshheading:19734009-Protein-Serine-Threonine Kinases,
pubmed-meshheading:19734009-Seizures, Febrile,
pubmed-meshheading:19734009-Transcription Factors,
pubmed-meshheading:19734009-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
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pubmed:affiliation |
Service de Neurologie Pediatrique, hôpital Necker Enfants Malades, APHP, Université Paris Descartes, Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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