Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature

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Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.4103/1817-1745.165685
P932PMC publication ID4611898
P698PubMed publication ID26557170

P2093author name stringRaffaella Faggioli
Paola Visconti
Annio Posar
P2860cites workMutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyQ28272644
Key clinical features to identify girls with CDKL5 mutationsQ28293847
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Q33910551
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patientsQ35101573
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.Q36930153
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Q38045465
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.Q48017922
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 casesQ48607444
Guidelines for reporting clinical features in cases with MECP2 mutationsQ48867822
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.Q51889095
Early onset seizures and Rett-like features associated with mutations in CDKL5.Q51928093
P433issue3
P304page(s)258-260
P577publication date2015-07-01
P1433published inJournal of Pediatric NeurosciencesQ6295723
P1476titleNeurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature
P478volume10

Reverse relations

cites work (P2860)
Q39271726Autism, epilepsy, and synaptopathies: a not rare association
Q92139608CDKL5 promotes proliferation, migration, and chemotherapeutic drug resistance of glioma cells via activation of the PI3K/AKT signaling pathway
Q57029718Neuron-Type Specific Loss of CDKL5 Leads to Alterations in mTOR Signaling and Synaptic Markers

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