| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.A.37851 |
| P698 | PubMed publication ID | 27528505 |
| P50 | author | Nicholas de Klerk | Q40129619 |
| John Christodoulou | Q42753915 | ||
| Helen Leonard | Q77336525 | ||
| Jenny Downs | Q88047935 | ||
| P2093 | author name string | David Forbes | |
| Gladys Ho | |||
| Simon Williams | |||
| Stephanie Fehr | |||
| 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 | ||
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| The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy | Q28272644 | ||
| Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009 | Q28274778 | ||
| Key clinical features to identify girls with CDKL5 mutations | Q28293847 | ||
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
| Gross motor profile in rett syndrome as determined by video analysis. | Q34004034 | ||
| Level of purposeful hand function as a marker of clinical severity in Rett syndrome | Q34004053 | ||
| There is variability in the attainment of developmental milestones in the CDKL5 disorder. | Q35053870 | ||
| Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. | Q36504423 | ||
| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Q36930153 | ||
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| Mutations in the C-terminus of CDKL5: proceed with caution | Q37493116 | ||
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| Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene | Q48212529 | ||
| CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. | Q48428697 | ||
| 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 | ||
| Does parent report measure performance? A study of the construct validity of the Functional Mobility Scale. | Q51823871 | ||
| 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 | ||
| Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 | ||
| Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. | Q54505733 | ||
| Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases | Q58554249 | ||
| P433 | issue | 11 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 2860-2869 | |
| P577 | publication date | 2016-08-16 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Functional abilities in children and adults with the CDKL5 disorder | |
| P478 | volume | 170 |
| Q64039595 | AMPA receptor dysregulation and therapeutic interventions in a mouse model of CDKL5 Deficiency Disorder |
| Q89805320 | CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy |
| 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. |
| Q59303931 | Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome |
| Q55436457 | Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder. |
| Q89460115 | Increased DNA Damage and Apoptosis in CDKL5-Deficient Neurons |
| Q48183034 | Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice. |
| Q33752190 | Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder |
| Q90748674 | Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic |
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