| scholarly article | Q13442814 |
| P50 | author | Stefano Sartori | Q41190210 |
| John Christodoulou | Q42753915 | ||
| Stephanie Fehr | Q58415023 | ||
| Jenny Downs | Q88047935 | ||
| P2093 | author name string | Meredith Wilson | |
| Stavroula Psoni | |||
| Alessandra Murgia | |||
| Gladys Ho | |||
| Helen Leonard | |||
| Marilena Vecchi | |||
| Nick de Klerk | |||
| Roberta Polli | |||
| Simon Williams | |||
| Xinhua Bao | |||
| P2860 | cites work | Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation | Q24300800 |
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| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
| Rett syndrome: revised diagnostic criteria and nomenclature | Q24596295 | ||
| Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes | Q28236247 | ||
| A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder | Q28244391 | ||
| Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder | Q28246317 | ||
| Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy | Q28250359 | ||
| Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy | Q28256843 | ||
| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy | Q28259617 | ||
| Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature | Q28260011 | ||
| The three stages of epilepsy in patients with CDKL5 mutations | Q28268280 | ||
| Seizures and electroencephalographic findings in CDKL5 mutations: case report and review | Q28269052 | ||
| Identification of the epileptogenic tuber in patients with tuberous sclerosis: a comparison of high-resolution EEG and MEG | Q28292197 | ||
| Key clinical features to identify girls with CDKL5 mutations | Q28293847 | ||
| CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy | Q28294905 | ||
| Investigating genotype-phenotype relationships in Rett syndrome using an international data set. | Q31149239 | ||
| Angelman's syndrome | Q33597572 | ||
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
| The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis | Q33924011 | ||
| WHO Motor Development Study: windows of achievement for six gross motor development milestones | Q36525973 | ||
| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Q36930153 | ||
| Epilepsy caused by CDKL5 mutations. | Q37759629 | ||
| Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity | Q37903119 | ||
| Early progressive encephalopathy in boys and MECP2 mutations | Q41919344 | ||
| The clinical pattern of the Rett syndrome | Q41934117 | ||
| Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. | Q45970066 | ||
| Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. | Q46004507 | ||
| Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. | Q48017922 | ||
| A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. | Q48984134 | ||
| CDKL5 alterations lead to early epileptic encephalopathy in both genders | Q49032666 | ||
| Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders | Q50304287 | ||
| Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome. | Q51467838 | ||
| Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. | Q51804552 | ||
| CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. | Q51889095 | ||
| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. | Q51889620 | ||
| Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. | Q51907594 | ||
| Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 | ||
| Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. | Q52606025 | ||
| The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. | Q52612488 | ||
| Clinical phenotype of 5 females with a CDKL5 mutation. | Q54252592 | ||
| CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. | Q54716684 | ||
| A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. | Q54764790 | ||
| CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY | Q56592648 | ||
| A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence | Q57927167 | ||
| Is the girl with Rett syndrome normal at birth? | Q74266188 | ||
| Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome | Q79822761 | ||
| Rett syndrome: a study of the face | Q84231462 | ||
| Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males | Q84524320 | ||
| Simultaneous onset of infantile spasms in monozygotic twins | Q84540038 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | CDKL5 deficiency disorder | Q40739448 |
| P304 | page(s) | 266-73 | |
| P577 | publication date | 2013-03-01 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy | |
| P478 | volume | 21 |
| Q64039399 | Analysis of the Phenotypes in the Rett Networked Database |
| Q89805320 | CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy |
| Q35915948 | CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization |
| Q38946519 | CDKL5 deficiency entails sleep apneas in mice |
| Q39827058 | CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice. |
| Q47134048 | CDKL5 variants: Improving our understanding of a rare neurologic disorder |
| Q36055559 | Characterisation of CDKL5 Transcript Isoforms in Human and Mouse |
| Q62084107 | Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics |
| Q38375116 | Clinical and biological progress over 50 years in Rett syndrome. |
| Q35101573 | Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients |
| Q47388004 | Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability. |
| Q64939210 | Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. |
| Q35876723 | Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs |
| Q30661397 | Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype |
| Q54199836 | FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome. |
| Q55017288 | Functional abilities in children and adults with the CDKL5 disorder. |
| Q64078571 | Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist |
| Q53118141 | Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements. |
| Q36805699 | Genetic forms of epilepsies and other paroxysmal disorders |
| Q48599692 | HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder |
| Q55436457 | Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder. |
| Q47841401 | Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases |
| Q42046503 | Identification of an elaborate complex mediating postsynaptic inhibition |
| Q37595707 | Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life |
| Q36886682 | Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. |
| Q89460115 | Increased DNA Damage and Apoptosis in CDKL5-Deficient Neurons |
| Q35595321 | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders |
| Q36504423 | Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. |
| Q50225101 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning |
| Q33623490 | Mapping pathological phenotypes in a mouse model of CDKL5 disorder |
| Q92782695 | Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder? |
| Q33752190 | Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder |
| Q52695037 | Mutation in an alternative transcript of CDKL5 in a boy with early onset seizures. |
| Q55253870 | Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. |
| Q36180117 | Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature |
| Q63976989 | Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase |
| Q28274920 | Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome |
| Q56018329 | Quantitative phosphoproteomic analysis of the molecular substrates of sleep need |
| Q90748674 | Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic |
| Q50422613 | Rett syndrome: a neurological disorder with metabolic components |
| Q37294375 | Rett syndrome: a wide clinical and autonomic picture. |
| Q53752724 | RettBASE: Rett syndrome database update. |
| Q33762246 | Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice |
| Q36103911 | Sequential Elution Interactome Analysis of the Mind Bomb 1 Ubiquitin Ligase Reveals a Novel Role in Dendritic Spine Outgrowth |
| Q92874536 | Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy |
| Q38122234 | Structural characterization of the cyclin-dependent protein kinase family |
| Q57267880 | Synaptic Disorders |
| Q38125969 | Synaptic plasticity and signaling in Rett syndrome. |
| Q26800087 | The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome |
| Q38501842 | The genetics of the epilepsies. |
| Q89596064 | The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo |
| Q48548114 | The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex |
| Q35053870 | There is variability in the attainment of developmental milestones in the CDKL5 disorder. |
| Q55654628 | Transcriptome level analysis in Rett syndrome using human samples from different tissues. |
| Q48284886 | Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation |
| Q37741362 | Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching |
| Q38730212 | Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. |
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