CDKL5 variants: Improving our understanding of a rare neurologic disorder

scientific article published on 15 December 2017

CDKL5 variants: Improving our understanding of a rare neurologic disorder is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1212/NXG.0000000000000200
P932PMC publication ID5732004
P698PubMed publication ID29264392

P50authorJenny DownsQ88047935
Vera M. KalscheuerQ28468812
Ralph D HectorQ40199978
P2093author name stringHelen Leonard
Stuart R Cobb
Mercedes Pineda
Mark E S Bailey
Angus Clarke
Tim A Benke
Judith Armstrong
Friederike Hennig
P2860cites workCDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.Q50305506
Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.Q50567749
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 CGHQ56967247
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brainQ60894792
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathyQ88541428
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationQ24532056
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
dbSNP: the NCBI database of genetic variationQ24608672
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesQ24644530
A global reference for human genetic variationQ25909434
Analysis of protein-coding genetic variation in 60,706 humansQ26831376
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorderQ28244391
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureQ28260011
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyQ28272644
Key clinical features to identify girls with CDKL5 mutationsQ28293847
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesQ34021143
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 PathologyQ34465792
Autoregulation of the nonsense-mediated mRNA decay pathway in human cellsQ35567463
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.Q35722175
Characterisation of CDKL5 Transcript Isoforms in Human and MouseQ36055559
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 PredictorQ36970975
De novo genic mutations among a Chinese autism spectrum disorder cohort.Q37408616
Mutations in the C-terminus of CDKL5: proceed with cautionQ37493116
Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivityQ37903119
CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the LiteratureQ38823991
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 evolutionQ44889062
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderQ48766875
CDKL5 alterations lead to early epileptic encephalopathy in both gendersQ49032666
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.Q49060228
P433issue6
P304page(s)e200
P577publication date2017-12-15
P1433published inNeurology. GeneticsQ27727179
P1476titleCDKL5 variants: Improving our understanding of a rare neurologic disorder
P478volume3

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cites work (P2860)
Q92761256Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder
Q93386983Caregiver's perception of epilepsy treatment, quality of life and comorbidities in an international cohort of CDKL5 patients
Q64939210Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Q92782695Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?
Q89596064The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo

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