scholarly article | Q13442814 |
P50 | author | Jenny Downs | Q88047935 |
Vera M. Kalscheuer | Q28468812 | ||
Ralph D Hector | Q40199978 | ||
P2093 | author name string | Helen Leonard | |
Stuart R Cobb | |||
Mercedes Pineda | |||
Mark E S Bailey | |||
Angus Clarke | |||
Tim A Benke | |||
Judith Armstrong | |||
Friederike Hennig | |||
P2860 | cites work | CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. | Q50305506 |
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9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features. | Q50797691 | ||
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. | Q51902875 | ||
Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. | Q51911652 | ||
Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 | ||
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. | Q52853889 | ||
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. | Q54764790 | ||
Characterization of interstitial Xp duplications in two families by tiling path array CGH | Q56967247 | ||
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain | Q60894792 | ||
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy | Q88541428 | ||
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 | ||
dbSNP: the NCBI database of genetic variation | Q24608672 | ||
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources | Q24644530 | ||
A global reference for human genetic variation | Q25909434 | ||
Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder | Q28244391 | ||
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature | Q28260011 | ||
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy | Q28272644 | ||
Key clinical features to identify girls with CDKL5 mutations | Q28293847 | ||
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males | Q34021143 | ||
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
Autoregulation of the nonsense-mediated mRNA decay pathway in human cells | Q35567463 | ||
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. | Q35722175 | ||
Characterisation of CDKL5 Transcript Isoforms in Human and Mouse | Q36055559 | ||
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. | Q36504423 | ||
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. | Q36886682 | ||
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Q36930153 | ||
The Ensembl Variant Effect Predictor | Q36970975 | ||
De novo genic mutations among a Chinese autism spectrum disorder cohort. | Q37408616 | ||
Mutations in the C-terminus of CDKL5: proceed with caution | Q37493116 | ||
Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity | Q37903119 | ||
CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature | Q38823991 | ||
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. | Q39784685 | ||
RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution | Q44889062 | ||
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder | Q48766875 | ||
CDKL5 alterations lead to early epileptic encephalopathy in both genders | Q49032666 | ||
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. | Q49060228 | ||
P433 | issue | 6 | |
P304 | page(s) | e200 | |
P577 | publication date | 2017-12-15 | |
P1433 | published in | Neurology. Genetics | Q27727179 |
P1476 | title | CDKL5 variants: Improving our understanding of a rare neurologic disorder | |
P478 | volume | 3 |
Q92761256 | Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder |
Q93386983 | Caregiver's perception of epilepsy treatment, quality of life and comorbidities in an international cohort of CDKL5 patients |
Q64939210 | Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. |
Q92782695 | Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder? |
Q89596064 | The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo |
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