CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Seizures, Focal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.310 Biomarker phenotype CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.310 GeneticVariation phenotype BEFREE Our observation and review of the literature suggest that a broader polymorphic electroclinical pattern with both generalized and focal seizures may occur in patients with CDKL5 mutations. 17049193 2007