Keywords: West syndrome; Infantile spasms syndrome; CDKL5; STXBP1; MEF2C; SCN2A
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Keywords: AED; Ketogenic diet; CDKL5; Long-term efficacyCDKL5, X-linked cyclin-dependent kinase-like 5 gene; MeCP2, methyl-cytosine phosphate guanine-binding protein2
Loss of CDKL5 disrupts respiratory function in mice
Keywords: CDKL5; Respiration; Tidal volume; Hypoxia; Hypercapnia;
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia
Keywords: Methylmalonic acidemia; Whole-exome sequencing; De novo mutation; CDKL5; Early-onset epileptic encephalopathy;
The course of awake breathing disturbances across the lifespan in Rett syndrome
Keywords: CDKL5; human cyclin-dependent kinase-like 5 gene; MeCP2; human methyl-CpG-binding protein 2; MECP2; human methyl-CpG-binding protein 2 gene; Mecp2; murine methyl-CpG-binding protein 2 gene; Rett syndrome; MECP2; Periodic breathing; Dysautonomia; Natural H
Whole exome sequencing identifies a novel 5â¯Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures
Keywords: RTT; Rett syndrome; MECP2; Methyl-CpG-Binding Protein 2; CDKL5; Cyclin Dependent Kinase Like 5; FOXG1; Forkhead Box G1; OMIM; Online Mendelian Inheritance in Man; PRKD1; Protein Kinase D1; NOVA1; Neurooncologic Ventral Antigen 1; c14orf23; Chromosome 14 O
Multi-PK antibodies: Powerful analytical tools to explore the protein kinase world
Keywords: 2D-PAGE; two-dimensional polyacrylamide gel electrophoresis; CaMK; Ca2+/calmodulin-dependent protein kinase; CDKL5; cyclin-dependent kinase-like 5; CNBr; cyanogen bromide; DCLK; double-cortin like protein kinase; Dnmt1; DNA methyltransferase 1; FAK; focal
4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation
Keywords: Inflammation; Isoprostanes; Oxidative stress; Rare disease; Orphan disease; CDKL5; FOXG1; MecP2;
CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility
Keywords: CDKL5; Developmental disorders; Epilepsy; Hippocampus; Excitatory synapses; NMDA receptors; GluN2B; SAP102; Ifenprodil;
Subcellular distribution of cyclin-dependent kinase-like 5 (CDKL5) is regulated through phosphorylation by dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A)
Keywords: CDKL5; DYRK1A; Protein phosphorylation; Rett syndrome; Down syndrome; Amph1; amphiphysin 1; CDKL5; cyclin-dependent kinase-like 5; Dnmt1; DNA methyltransferase 1; DYRK1A; dual specificity tyrosine-phosphorylation-regulated kinase 1A; GST; glutathione S-tr
Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1
Keywords: CDKL5; dendritic spines; IGF-1; imaging; PSD-95; Rett syndrome;
Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing
Keywords: CDKL5; Early infantile epileptic encephalopathy (EIEE); Somatic mosaicism; Next-generation sequencing; Double mutations
Bases moleculares del síndrome de Rett, una mirada actual
Keywords: Síndrome de Rett; MECP2; CDKL5; FOXG1; Trastorno del neurodesarrollo; Epilepsia precozRett syndrome; MECP2; CDKL5; FOXG1; Neurodevelopmental disorder; Early epilepsy
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder
Keywords: CDKL5; cyclin-dependent kinase-like 5; GCLC; glutamate-cysteine ligase catalytic subunit; HNE; 4-hydroxy-2-nonenal; HNE-PA; HNE-protein adduct; iNOS; inducible NO synthase; MECP2; methyl-CpG binding protein 2; Nrf2; nuclear factor erythroid 2-relate
Effect of chronic heroin and cocaine administration on global DNA methylation in brain and liver
Keywords: CpG; cytosine-phosphate-guanine; DNMT; DNA methyltransferase; DDM; DNA demethylase; OPRM1; opioid receptor mu 1; SP1; specificity protein 1; AP1; activator protein 1; PKCÉ; protein kinase C epsilon; CDKL5; cyclin-dependent kinase-like 5; MOPr; mu opioid
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: Identification of novel mutations
Keywords: CDKL5; cyclin-dependent kinase-like 5; HRMA; high resolution melting analysis; DNA; deoxyribonucleic acid; dHPLC; denaturing high performance liquid chromatography; RTT; Rett syndrome; ISSX; infantile spasm syndrome X-linked; MECP2; methyl CpG-binding pro
Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder
Keywords: Amphiphysin 1; CDKL5; Endophilin; Endogenous substrate; Neurodevelopmental disorder; Rett syndrome;
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5
Keywords: CDKL5; Microdeletion; Early-onset epileptic encephalopathy; Rett syndrome-like features
Molecular characteristics of Chinese patients with Rett syndrome
Keywords: Rett syndrome; Molecular characteristics; MECP2; CDKL5; FOXG1
Ohtahara syndrome with emphasis on recent genetic discovery
Keywords: Ohtahara syndrome; Infantile epileptic encephalopathy; EEG Suppression-burst; ARX; CDKL5; SLC25A22; Stxbp1
CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells
Keywords: Rett's syndrome; CDKL5; MYCN; Neurogenesis; Differentiation;
Increased levels of 4HNE-protein plasma adducts in Rett syndrome
Keywords: CDKL5, cyclin-dependent kinase-like 5; FOXG1, forkhead box protein G1; 4HNE-PAs, 4-hydroxynonenal protein adducts; MeCP2, methyl-CpG-binding protein 2; RTT, Rett syndromeRett syndrome; MeCP2; CDKL5; FOXG1; Oxidative stress; 4-Hydroxynonenal
Epilepsy caused by CDKL5 mutations
Keywords: Epilepsy; Mental retardation; CDKL5; Dysmorphology
F4-neuroprostanes mediate neurological severity in Rett syndrome
Keywords: Rett syndrome; MeCP2; CDKL5; Neuroprostanes; Autism spectrum disorders; Ï-3 polyunsaturated fatty acids;
Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways
Keywords: Rett; Rett-like; RTT; MECP2; NTNG1; CDKL5; MBD2; FOXG1; Mutation analysis; mtDNA sequencing; Copy number; Microarray; Genome-wide gene expression profiling; Functional pathway analysis; Genes related to Rett phenotype
A glycobiology review: Carbohydrates, lectins and implications in cancer therapeutics
Keywords: Glycobiology review; Carbohydrates; Lectins; Cancer therapeutics; Cancer glycans; APC; antigen presenting cell; B4GALNT2; β-1,4-N-acetyl-galactosaminyltransferase; CDKL5; cyclin-dependent kinase-like 5; CNS; central nervous system; Con A; concanavalin A;
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder
Keywords: CDKL5; Seizures; Late-onset; Last exon
Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria
Keywords: Rett syndrome; Early-onset seizure variant; CDKL5; Epilepsy; Diagnostic criteria
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
Keywords: SMEI; SCN1A ARX; CDKL5; Epileptic encephalopathy
Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature
Keywords: CDKL5; Cyclin-dependent kinase-like 5 gene; Electroencephalography; Pseudoperiodic pattern; Genotype–phenotype correlations; Atypical Rett syndrome; Treatment
Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review
Keywords: Early-onset seizures Rett syndrome variant; Rett syndrome; Autism; CDKL5
A new paradigm for West syndrome based on molecular and cell biology
Keywords: West syndrome; Infantile spasm; ARX; CDKL5; Lissencephaly; Interneuronopathy;
Predictors of seizure onset in Rett syndrome
Keywords: CDKL5; Cyclin-dependent kinase-like 5; HC; Head circumference; HR; Hazard ratio; IQR; Interquartile range; MECP2; Methyl-CpG binding protein 2; NLS; Nuclear localization signal; RTT; Rett syndrome; STK9; Serine threonine kinase 9; TRD; Transcription repre