CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. 15492925 2004
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease LHGDN These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. 15492925 2004
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). 16015284 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. 16326141 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease LHGDN 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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease 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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Moreover, this report reinforces the observation that the CDKL5 phenotype overlaps with Rett syndrome and that CDKL5 gene analysis is recommended in females with a seizure disorder commencing in the first weeks of life. 16813600 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease LHGDN We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). 17993579 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). 17993579 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Thus, a CDKL5 investigation should be performed in developmentally delayed patients with early-onset seizures, including drug-resistant subjects with severe EEG changes, as well as in patients with milder, drug-responsive forms of epilepsy. 18063413 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE We retrospectively analyzed the electroclinical phenotypes of 12 patients aged from 2.5 to 19 years diagnosed with pathogenic CDKL5 mutations and one patient with a novel intronic sequence variation of uncertain pathogenicity and examined whether the severity of the epilepsy was linked to the type and location of mutations. 18266744 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease LHGDN Early epilepsy with normal interictal EEG and severe hypotonia are the key clinical features in identifying patients likely to have CDKL5 mutations. 18790821 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Early epilepsy with normal interictal EEG and severe hypotonia are the key clinical features in identifying patients likely to have CDKL5 mutations. 18790821 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE It has been found that CDKL5 gene mutations are responsible for early-onset epilepsy and drug resistance. 19241098 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE In conclusion, this report reinforces the observation that the CDKL5 phenotype overlaps with RTT and that CDKL5 analysis is recommended in patients with a seizure disorder commencing during the first months of life. 19253388 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Among Rett clinical variants, the early-onset seizure variant describes girls with early onset epilepsy and it is caused by mutations in CDKL5. 19362436 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Atypical RS with severe early-onset encephalopathy and therapy-resistant epilepsy can be due to mutations in the CDKL5 (Cyclin-Dependent Kinase-like 5) gene in Xp22. 19428276 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 19471977 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may be associated with early onset seizures forms of SMEI/DS. 19734009 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages. 20493745 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes.The frequency of epilepsy was 79%. 20728410 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Both patients with CDKL5 mutation presented therapy-resistant epilepsy and a phenotype fitting with the diagnosis of early-onset variant of RTT. 21160487 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE The results were evaluated against those of a comparison group of nine infants (aged below 1y) with epileptic encephalography who had tested negative for CDKL5 mutations and deletions. 21309761 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE We performed retrospective chart reviews of children at our institution with epilepsy and CDKL5 mutations.Six children were identified. 22264704 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy. 22832775 2013