| P2093 | author name string | Ling Li | |
| | Jing Wu | |
| | Kun Sun | |
| | Dake He | |
| | Yumei Yan | |
| | Ruolin Hou | |
| P2860 | cites work | 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 |
| | The three stages of epilepsy in patients with CDKL5 mutations | Q28268280 |
| | What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy | Q28270699 |
| | Key clinical features to identify girls with CDKL5 mutations | Q28293847 |
| | CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy | Q28294905 |
| | 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 |
| | Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. | Q38730212 |
| | Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. | Q45970066 |
| | Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation | Q48436860 |
| | CDKL5 alterations lead to early epileptic encephalopathy in both genders | Q49032666 |
| | Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. | Q54505733 |
| | Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder | Q57137850 |
| | Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. | Q64939210 |
| | The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy. | Q64991212 |
| | Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders | Q88359113 |
| | Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy | Q88934750 |
| | Molecular and Synaptic Bases of CDKL5 Disorder | Q91678331 |
| | Phenotypic manifestations between male and female children with CDKL5 mutations | Q92252559 |
| | Caregiver's perception of epilepsy treatment, quality of life and comorbidities in an international cohort of CDKL5 patients | Q93386983 |
| P433 | issue | 1 | |
| P304 | page(s) | 27 | |
| P577 | publication date | 2020-02-28 | |
| P1433 | published in | Italian Journal of Paediatrics | Q15762169 |
| P1476 | title | Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders | |
| P478 | volume | 46 | |