CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Drug Resistant Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE CDKL5 deficiency is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene and clinically manifests often in females as drug-resistant intractable epilepsy and severe psychomotor retardation. 31492455 2020
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE Mutations in the CDKL5 (cyclin-dependent kinase-like-5) gene are known to determine early-onset drug resistant epilepsies and severe cognitive impairment with absent language, hand stereotypies, and deceleration of head growth. 30378547 2018
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation. 27823948 2017
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe neurodevelopmental disorders accompanied by intractable epilepsies, i.e. 28688852 2017
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE Patients bearing missense mutations in the ATP binding site such as the p.Ala40Val mutation typically walked unaided, had normocephaly, better hand use ability, and less frequent refractory epilepsy when compared to girls with other CDKL5 mutations. 22678952 2012
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE Mutations of the cyclin-dependent kinase-like 5 (CDKL5) and netrin-G1 (NTNG1) genes cause a severe neurodevelopmental disorder with clinical features that are closely related to Rett syndrome, including intellectual disability, early-onset intractable epilepsy and autism. 22922712 2012
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 Biomarker disease BEFREE In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features. 22779007 2012
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE Children with cryptogenic infantile intractable epilepsy were screened for CDKL5 mutation using multiplex ligation-dependent probe amplification and DNA sequencing. 21775177 2011
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE CDKL5 gene deletions are an under-ascertained cause of early onset intractable epilepsy in girls. 19780792 2010
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE Interestingly, the patients carrying a CDKL5 mutations causing a truncation of the catalytic domain tended to develop a more frequent refractory epilepsy than patients with mutations located downstream (4/6, 66.6% versus 1/6, 16%) although, these trends are not yet significant. 18266744 2008
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.100 GeneticVariation disease BEFREE CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 18809835 2008