CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Tonic - clonic seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.410 Biomarker disease CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.410 Biomarker disease BEFREE Infants with CDKL5-related early epileptic encephalopathy can present in the first year of life with an unusual electroclinical pattern of 'prolonged' generalized tonic-clonic seizures. 21309761 2011
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.410 Biomarker disease HPO