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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
13
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pubmed:dateCreated |
2008-9-23
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pubmed:abstractText |
To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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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 |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
23
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pubmed:volume |
71
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
997-9
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:18809835-Abnormalities, Multiple,
pubmed-meshheading:18809835-Adolescent,
pubmed-meshheading:18809835-Brain Diseases,
pubmed-meshheading:18809835-Child,
pubmed-meshheading:18809835-Child, Preschool,
pubmed-meshheading:18809835-Epilepsy,
pubmed-meshheading:18809835-Genetic Predisposition to Disease,
pubmed-meshheading:18809835-Genetic Testing,
pubmed-meshheading:18809835-Humans,
pubmed-meshheading:18809835-Intellectual Disability,
pubmed-meshheading:18809835-Male,
pubmed-meshheading:18809835-Mutation, Missense,
pubmed-meshheading:18809835-Polymorphism, Single Nucleotide,
pubmed-meshheading:18809835-Protein-Serine-Threonine Kinases
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pubmed:year |
2008
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pubmed:articleTitle |
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
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pubmed:affiliation |
Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Via Conte Ruggero 73, 94018 Troina (EN), Italy. melia@oasi.en.it
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pubmed:publicationType |
Journal Article,
Case Reports
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