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Neuropharmacology, 08/2019, pp. 107746 - 107746
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause a severe neurodevelopmental disorder, CDKL5 deficiency disorder (CDD). CDKL5 is... 
Index Medicus
Journal Article
Brain & development, 09/2019
CDKL5 deficiency is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene and clinically manifests often in females as drug-resistant... 
Index Medicus
Journal Article
Biological Psychiatry, ISSN 0006-3223, 2015, Volume 80, Issue 4, pp. 302 - 311
Abstract Background CDKL5 (cyclin-dependent kinase-like 5) is mutated in many severe neurodevelopmental disorders, including atypical Rett syndrome. CDKL5 was... 
Psychiatry | IGF-1 | CDKL5 | PSD-95 | dendritic spines | imaging | Rett syndrome | LONG-TERM | NEOCORTEX IN-VIVO | RETT-SYNDROME | STRUCTURAL PLASTICITY | PSYCHIATRY | CRANIAL WINDOW | PROTEIN-SYNTHESIS | NEUROSCIENCES | MECP2 | SIGNALING PATHWAY | DYSREGULATION | MICE | Disks Large Homolog 4 Protein | Protein-Serine-Threonine Kinases - deficiency | Age Factors | Gene Expression Regulation, Developmental - genetics | Green Fluorescent Proteins - genetics | Spasms, Infantile - genetics | Synapses - pathology | Somatosensory Cortex - pathology | Rett Syndrome - drug therapy | Long-Term Potentiation - drug effects | Dendritic Spines - drug effects | Membrane Proteins - metabolism | Phosphorylation - drug effects | Insulin-Like Growth Factor I - therapeutic use | Pyramidal Cells - ultrastructure | Disease Models, Animal | Animals, Newborn | Green Fluorescent Proteins - metabolism | Synapses - drug effects | Epileptic Syndromes | Gene Expression Regulation, Developmental - drug effects | Protein-Serine-Threonine Kinases - genetics | Mice, Transgenic | Long-Term Potentiation - genetics | Spasms, Infantile - pathology | Patch-Clamp Techniques | Animals | Spasms, Infantile - drug therapy | Dendritic Spines - pathology | Rett Syndrome - pathology | Guanylate Kinases - metabolism | Pyramidal Cells - pathology | Mice | Rett Syndrome - genetics | Proteins | Neurosciences | Molecular biology | Analysis | Index Medicus
Journal Article
Analytical Biochemistry, ISSN 0003-2697, 02/2019, Volume 566, pp. 58 - 61
Cyclin-dependent kinase-like 5 (CDKL5) is a serine/threonine protein kinase, with its gene mutation leading to a neurodevelopmental disorder. Pathogenic point... 
CDKL5 deficient disorder | Autophosphorylation | Phos-tag SDS-PAGE | Missense mutation | Rett syndrome | Cyclin-dependent kinase-like 5 | CHEMISTRY, ANALYTICAL | CDKL5 | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | INFANTILE SPASMS | SUBSTRATE | MUTATIONS | TAG
Journal Article
Journal Article
International Journal of Pediatrics, ISSN 2345-5047, 2016, Volume 4, Issue 2, pp. 1315 - 1318
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized... 
Epilepsy | CDKL5 | Mutation | epilepsy
Journal Article
International journal of molecular sciences, 08/2019, Volume 20, Issue 17, p. 4130
Mutations in the gene lead to an incurable rare neurological condition characterized by the onset of seizures in the first weeks of life and severe... 
Index Medicus | U1snRNA | CDKL5 | mutations | splicing
Journal Article
Epileptic Disorders, ISSN 1294-9361, 06/2019, Volume 21, Issue 3, pp. 271 - 277
Aims . To further characterise CDKL5 ‐related disorder, previously classified as an early‐onset seizure variant of Rett syndrome, which is currently considered... 
CDKL5 | gene | neurodevelopmental encephalopathy | Rett syndrome | genetic epilepsy | developmental delay | epileptic encephalopathy | honeymoon period | CDKL5 gene | CLINICAL NEUROLOGY | Convulsions & seizures | Phenotypes | Epilepsy | EEG | Encephalopathy | Cognition | Mutation | Neurodevelopmental disorders
Journal Article
Molecular Syndromology, ISSN 1661-8769, 04/2012, Volume 2, Issue 3-5, pp. 137 - 152
Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in girls with Rett-like features and early-onset epileptic encephalopathy... 
Paper | Epileptic encephalopathy | CDKL5 | Rett syndrome
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Epilepsia, ISSN 0013-9580, 06/2008, Volume 49, Issue 6, pp. 1027 - 1037
Journal Article
Epilepsy & Behavior, ISSN 1525-5050, 09/2018, Volume 86, pp. 131 - 137
We studied our collective open-label, compassionate use experience in using cannabidiol (CBD) to treat epilepsy in patients with CDKL5 deficiency disorder and... 
Cannabidiol | Doose syndrome | CDKL5 deficiency disorder | Dup15q syndrome | Aicardi syndrome | TRIAL | SEIZURES | PSYCHIATRY | TREATMENT-RESISTANT EPILEPSY | Dupl5q syndrome | BEHAVIORAL SCIENCES | CLINICAL NEUROLOGY | Index Medicus
Journal Article