| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1032844165 |
| P356 | DOI | 10.1186/1471-2350-15-24 |
| P932 | PMC publication ID | 3938974 |
| P698 | PubMed publication ID | 24564546 |
| P5875 | ResearchGate publication ID | 260375647 |
| P2093 | author name string | Jie Zhang | |
| Jingjing Zhang | |||
| Xiaoying Zhang | |||
| Ying Zhao | |||
| Hong Pan | |||
| Xinhua Bao | |||
| Liping Wei | |||
| Xiru Wu | |||
| Jiarui Li | |||
| Qingping Zhang | |||
| Guangna Cao | |||
| P2860 | cites work | Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation | Q24300800 |
| Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Q24532056 | ||
| 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 | ||
| 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 | ||
| 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 | ||
| What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy | Q28270699 | ||
| The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy | Q28272644 | ||
| Key clinical features to identify girls with CDKL5 mutations | Q28293847 | ||
| CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy | Q28294905 | ||
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
| Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation | Q34206865 | ||
| CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain | Q34367603 | ||
| CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms | Q35447640 | ||
| Adult Phenotypes in Angelman- and Rett-Like Syndromes | Q36006568 | ||
| CDKL5-Related Disorders: From Clinical Description to Molecular Genetics | Q36006599 | ||
| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Q36930153 | ||
| Epilepsy caused by CDKL5 mutations. | Q37759629 | ||
| Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. | Q38045465 | ||
| Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome | Q42681086 | ||
| Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. | Q45970066 | ||
| Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. | Q48017922 | ||
| Myoclonic encephalopathy in the CDKL5 gene mutation. | Q48522097 | ||
| 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 | ||
| Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 | ||
| A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. | Q51942103 | ||
| Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. | Q54505733 | ||
| CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY | Q56592648 | ||
| Age- and tissue-specific variation of X chromosome inactivation ratios in normal women | Q73326035 | ||
| P304 | page(s) | 24 | |
| P577 | publication date | 2014-02-25 | |
| P1433 | published in | BMC Medical Genetics | Q15759918 |
| P1476 | title | Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients | |
| P478 | volume | 15 |
| Q28079929 | A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. |
| Q33827328 | Autism spectrum disorder and epileptic encephalopathy: common causes, many questions |
| Q38562939 | Brief report: systematic review of Rett syndrome in males |
| Q89805320 | CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy |
| Q92104846 | From Cannabinoids and Neurosteroids to Statins and the Ketogenic Diet: New Therapeutic Avenues in Rett Syndrome? |
| Q55436457 | Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder. |
| Q49925001 | Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients |
| Q36180117 | Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature |
| Q89945289 | Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders |
| Q41554454 | Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. |
| Q36671161 | Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy |
| Q48667911 | The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study |
| Q37741362 | Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching |
| Q38921134 | Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan |
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