Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2008-6-16
pubmed:abstractText
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are responsible for a severe encephalopathy with early epilepsy. So far, the electroclinical phenotype remains largely unknown and no clear genotype-phenotype correlations have been established.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1528-1167
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1027-37
pubmed:meshHeading
pubmed-meshheading:18266744-Adolescent, pubmed-meshheading:18266744-Catalytic Domain, pubmed-meshheading:18266744-Child, pubmed-meshheading:18266744-Child, Preschool, pubmed-meshheading:18266744-Chromosomes, Human, X, pubmed-meshheading:18266744-Chronic Disease, pubmed-meshheading:18266744-DNA Mutational Analysis, pubmed-meshheading:18266744-Disease Progression, pubmed-meshheading:18266744-Electroencephalography, pubmed-meshheading:18266744-Epilepsies, Myoclonic, pubmed-meshheading:18266744-Epilepsy, pubmed-meshheading:18266744-Epilepsy, Generalized, pubmed-meshheading:18266744-Genotype, pubmed-meshheading:18266744-Heterozygote Detection, pubmed-meshheading:18266744-Humans, pubmed-meshheading:18266744-Infant, pubmed-meshheading:18266744-Infant, Newborn, pubmed-meshheading:18266744-Introns, pubmed-meshheading:18266744-Phenotype, pubmed-meshheading:18266744-Protein-Serine-Threonine Kinases, pubmed-meshheading:18266744-Retrospective Studies, pubmed-meshheading:18266744-Sex Chromosome Aberrations, pubmed-meshheading:18266744-Spasms, Infantile
pubmed:year
2008
pubmed:articleTitle
The three stages of epilepsy in patients with CDKL5 mutations.
pubmed:affiliation
Département de Pédiatrie, Service de Neurologie Pédiatrique, Hopital Necker Enfants Malades, AP-HP, Paris V, Paris, France. nadia.bahi-buisson@nck.aphp.fr
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't