| P50 | author | Samarth Bhatt | Q42790331 |
| | Pawel Stankiewicz | Q113000978 |
| P2093 | author name string | Richard A Lewis | |
| | William Craigen | |
| | Sau Wai Cheung | |
| | Ping Fang | |
| | Zhilian Xia | |
| | Seema R Lalani | |
| | Xueqing Wang | |
| | Ayelet Erez | |
| | Amina J Patel | |
| | Sandra L H Davenport | |
| P2860 | cites work | Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation | Q24300800 |
| | Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region | Q24308698 |
| | 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 |
| | Key clinical features to identify girls with CDKL5 mutations | Q28293847 |
| | CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy | Q28294905 |
| | Alu repeats and human disease | Q29618262 |
| | Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases | Q30830662 |
| | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 |
| | Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation | Q34206865 |
| | CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Q36930153 |
| | Mechanisms for human genomic rearrangements | Q36975128 |
| | Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. | Q50567749 |
| | Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. | Q51902875 |
| | Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. | Q51907594 |
| | CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. | Q51923623 |
| | Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 |
| | Characterization of interstitial Xp duplications in two families by tiling path array CGH | Q56967247 |
| | Development and validation of a CGH microarray for clinical cytogenetic diagnosis | Q57537935 |
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | seizure | Q6279182 |
| P304 | page(s) | 363-9 | |
| P577 | publication date | 2009-10-01 | |
| P1433 | published in | Neurogenetics | Q15710048 |
| P1476 | title | Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder | |
| P478 | volume | 10 | |