CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Myoclonic Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.330 Biomarker phenotype CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.330 GeneticVariation phenotype BEFREE Development of early onset seizure was a characteristic clinical feature for the patients with CDKL5 alterations in both genders despite polymorphous seizure types, including myoclonic seizures, tonic seizures, and spasms. 21770923 2011
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.330 GeneticVariation phenotype BEFREE Generalized intractable seizures, as infantile spasms, and generalized tonic-clonic seizures and myoclonic seizures characterize the clinical picture of CDKL5 mutations. 17049193 2007
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.330 GeneticVariation phenotype BEFREE Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern. 16326141 2006