| P2093 | author name string | Cristina Martínez-Bouzas | |
| | Hiart Maortua | |
| | María-Teresa Calvo | |
| | Ainhoa García-Ribes | |
| | Feliciano Ramos | |
| | Izaskun Rubio | |
| | María-Asunción López-Aríztegui | |
| | María-Isabel Tejada | |
| | María-Jesús Martínez | |
| | Maria-Rosario Domingo | |
| | Nerea Puente | |
| P2860 | cites work | Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity | Q37903119 |
| | Genes of early-onset epileptic encephalopathies: from genotype to phenotype | Q37971127 |
| | Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. | Q45970066 |
| | Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. | Q48017922 |
| | A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. | Q48984134 |
| | Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 |
| | Clinical phenotype of 5 females with a CDKL5 mutation. | Q54252592 |
| | Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling. | Q54559440 |
| | A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. | Q54764790 |
| | Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome | Q79822761 |
| | CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome | Q24303656 |
| | Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Q24532056 |
| | Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 |
| | Rett syndrome: revised diagnostic criteria and nomenclature | Q24596295 |
| | 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 |
| | The story of Rett syndrome: from clinic to neurobiology | Q28256549 |
| | Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy | Q28259617 |
| | Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature | Q28260011 |
| | The three stages of epilepsy in patients with CDKL5 mutations | Q28268280 |
| | Key clinical features to identify girls with CDKL5 mutations | Q28293847 |
| | CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling | Q28574630 |
| | CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms | Q35447640 |
| | Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation | Q36060920 |
| | Epilepsy caused by CDKL5 mutations. | Q37759629 |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 68 | |
| P577 | publication date | 2012-08-06 | |
| P1433 | published in | BMC Medical Genetics | Q15759918 |
| P1476 | title | CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain | |
| P478 | volume | 13 | |