CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Epileptic Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.320 Biomarker phenotype BEFREE Cyclin-dependent kinase-like 5 (CDKL5) deficiency is a neurodevelopmental disorder characterized by epileptic seizures, severe intellectual disability, and autistic features. 28674172 2017
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.320 Biomarker phenotype CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.320 Biomarker phenotype BEFREE Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. 16611748 2006