Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.

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Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1041545877
P356DOI10.1007/S10048-011-0277-6
P698PubMed publication ID21318334

P50authorVera M. KalscheuerQ28468812
Irina StefanovaQ42871067
P2093author name stringWolfgang Lieb
Georg Christoph Korenke
Franco Laccone
Ute Fischer
Gabriele Gillessen-Kaesbach
Andreas Tzschach
Berten Ceulemans
Rainer Boor
Bettina Moser
Charlotte Runge
Melanie Hambrock
Nils Rademacher
Stefanie Spranger
P2860cites workDisruption 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
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machineryQ28257945
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Q33910551
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.Q34415995
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brainQ60894792
P433issue2
P921main subjectSevere mental retardationQ12373588
P304page(s)165-167
P577publication date2011-02-12
P1433published inNeurogeneticsQ15710048
P1476titleIdentification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
P478volume12

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cites work (P2860)
Q50305506CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Q34367603CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
Q48428697CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.
Q36642996CDKL5 regulates flagellar length and localizes to the base of the flagella in Chlamydomonas
Q36006599CDKL5-Related Disorders: From Clinical Description to Molecular Genetics
Q36055559Characterisation of CDKL5 Transcript Isoforms in Human and Mouse
Q35101573Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients
Q54252592Clinical phenotype of 5 females with a CDKL5 mutation.
Q37981593Genetic variation in the epigenetic machinery and mental health.
Q48599692HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder
Q36131883Induced pluripotent stem cells to model and treat neurogenetic disorders
Q26825057Modeling neurodevelopmental disorders using human neurons
Q52695037Mutation in an alternative transcript of CDKL5 in a boy with early onset seizures.
Q34531736Mutations in HECW2 are associated with intellectual disability and epilepsy
Q37493116Mutations in the C-terminus of CDKL5: proceed with caution
Q35722175Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
Q89945289Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
Q54505733Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Q59047735Rett Syndrome: Coming to Terms with Treatment
Q28272644The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
Q35053870There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Q28270699What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy

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