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rdf:type |
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lifeskim:mentions |
umls-concept:C0015780,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0036572,
umls-concept:C0036857,
umls-concept:C0037769,
umls-concept:C1420484,
umls-concept:C1524003,
umls-concept:C1843571,
umls-concept:C1850419,
umls-concept:C1970036
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pubmed:issue |
9
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pubmed:dateCreated |
2006-9-4
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pubmed:abstractText |
To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-11013441,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-11227330,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-11376997,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-12378695,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-12736870,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-1281384,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-14504318,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-15492925,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-15499549,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-15509243,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-15541450,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-15689447,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-15917271,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-16015284,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-16118346,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-16326141,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-16330482,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-1922811,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-4719410,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-8888053,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-9452919,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16611748-9680167
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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 |
Sep
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:ArcherH LHL,
pubmed-author:ClarkeAA,
pubmed-author:ColleyJJ,
pubmed-author:EdwardsSS,
pubmed-author:EvansJJ,
pubmed-author:HuytonMM,
pubmed-author:Newbury-EcobRR,
pubmed-author:O'CallaghanFF,
pubmed-author:O'ReganMM,
pubmed-author:OsborneJJ,
pubmed-author:SampsonJJ,
pubmed-author:TolmieJJ
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pubmed:issnType |
Electronic
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
729-34
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:16611748-Adolescent,
pubmed-meshheading:16611748-Adult,
pubmed-meshheading:16611748-Age of Onset,
pubmed-meshheading:16611748-Child,
pubmed-meshheading:16611748-Child, Preschool,
pubmed-meshheading:16611748-Female,
pubmed-meshheading:16611748-Humans,
pubmed-meshheading:16611748-Infant,
pubmed-meshheading:16611748-Infant, Newborn,
pubmed-meshheading:16611748-Intellectual Disability,
pubmed-meshheading:16611748-Male,
pubmed-meshheading:16611748-Mutation,
pubmed-meshheading:16611748-Protein-Serine-Threonine Kinases,
pubmed-meshheading:16611748-Seizures,
pubmed-meshheading:16611748-Spasms, Infantile
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pubmed:year |
2006
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pubmed:articleTitle |
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
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pubmed:affiliation |
Department of Medical Genetics, Cardiff University, University Hospital of Wales, Cardiff, UK. archerhl@cf.ac.uk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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