| scholarly article | Q13442814 |
| P356 | DOI | 10.1111/J.1365-2990.2012.01292.X |
| P698 | PubMed publication ID | 22812903 |
| P2093 | author name string | K Das | |
| T S Jacques | |||
| J Carmichael | |||
| M A Weber | |||
| P Prabhakar | |||
| P Munot | |||
| S M L Paine | |||
| P2860 | cites work | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 |
| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
| Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes | Q28236247 | ||
| A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder | Q28244391 | ||
| Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder | Q28246317 | ||
| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy | Q28259617 | ||
| Cerebellar volume and long-term use of phenytoin | Q34206424 | ||
| CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms | Q35447640 | ||
| Epilepsy caused by CDKL5 mutations. | Q37759629 | ||
| Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations | Q42722242 | ||
| Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. | Q48017922 | ||
| CDKL5 alterations lead to early epileptic encephalopathy in both genders | Q49032666 | ||
| Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders | Q50304287 | ||
| Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. | Q51804552 | ||
| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. | Q51889620 | ||
| Clinical phenotype of 5 females with a CDKL5 mutation. | Q54252592 | ||
| A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. | Q54764790 | ||
| P433 | issue | 7 | |
| P304 | page(s) | 744-747 | |
| P577 | publication date | 2012-12-01 | |
| P1433 | published in | Neuropathology and Applied Neurobiology | Q7002494 |
| P1476 | title | The neuropathological consequences of CDKL5 mutation | |
| P478 | volume | 38 |
| Q64939210 | Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. |
| Q64078571 | Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist |
| Q33762246 | Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice |
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