scholarly article | Q13442814 |
P2093 | author name string | Raffaella Faggioli | |
Paola Visconti | |||
Annio Posar | |||
P2860 | cites work | Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 |
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy | Q28272644 | ||
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 | ||
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients | Q35101573 | ||
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 cases | Q48607444 | ||
Guidelines for reporting clinical features in cases with MECP2 mutations | Q48867822 | ||
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 | ||
P433 | issue | 3 | |
P304 | page(s) | 258-260 | |
P577 | publication date | 2015-07-01 | |
P1433 | published in | Journal of Pediatric Neurosciences | Q6295723 |
P1476 | title | Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature | |
P478 | volume | 10 |
Q39271726 | Autism, epilepsy, and synaptopathies: a not rare association |
Q92139608 | CDKL5 promotes proliferation, migration, and chemotherapeutic drug resistance of glioma cells via activation of the PI3K/AKT signaling pathway |
Q57029718 | Neuron-Type Specific Loss of CDKL5 Leads to Alterations in mTOR Signaling and Synaptic Markers |
Search more.