| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.A.36547 |
| P698 | PubMed publication ID | 24715584 |
| P50 | author | Damien Sanlaville | Q56516103 |
| Jean-Michel Dupont | Q57419934 | ||
| P2093 | author name string | Vincent des Portes | |
| Renaud Touraine | |||
| Audrey Labalme | |||
| Patrick Edery | |||
| Gaetan Lesca | |||
| Nadia Boutry-Kryza | |||
| Alain Calender | |||
| Dorothée Ville | |||
| P2860 | cites work | 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 | ||
| 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 | ||
| Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature | Q28260011 | ||
| 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 | ||
| Detection of clinically relevant exonic copy-number changes by array CGH. | Q35172112 | ||
| The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans | Q35704490 | ||
| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. | Q51889620 | ||
| ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. | Q54366925 | ||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 2025-2028 | |
| P577 | publication date | 2014-04-08 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl | |
| P478 | volume | 164A |
| Q99237978 | Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report |
| Q55022100 | High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. |
| Q39136036 | The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. |
| Q37351435 | West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 |
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