title: Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
authors.forename: Nils
authors.initials: N
authors.lastname: Rademacher
authors.forename: Melanie
authors.initials: M
authors.lastname: Hambrock
authors.forename: Ute
authors.initials: U
authors.lastname: Fischer
authors.forename: Bettina
authors.initials: B
authors.lastname: Moser
authors.forename: Berten
authors.initials: B
authors.lastname: Ceulemans
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Lieb
authors.forename: Rainer
authors.initials: R
authors.lastname: Boor
authors.forename: Irina
authors.initials: I
authors.lastname: Stefanova
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Charlotte
authors.initials: C
authors.lastname: Runge
authors.forename: Georg Christoph
authors.initials: GC
authors.lastname: Korenke
authors.forename: Stefanie
authors.initials: S
authors.lastname: Spranger
authors.forename: Franco
authors.initials: F
authors.lastname: Laccone
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
authors.forename: Vera M
authors.initials: VM
authors.lastname: Kalscheuer
mesh_terms: D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002478:Cells, Cultured; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000502:physiology; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015518:Rett Syndrome / Q000150:complications / Q000235:genetics*; D012640:Seizures / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human