CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Infantile Spasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Male children with CDKL5 mutations demonstrate a higher frequency of infantile spasms and brain atrophy, whereas female children often exhibit atypical Rett syndrome with EoEE. 31122804 2019
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Mutations in CDKL5 gene are responsible for 7 with Hanefeld variants of RTT and 2 with early-onset epileptic encephalopathy in 71 girls as well as for 1 infantile spasms in 31 males. 24564546 2014
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene have been described in girls with Rett-like features and early-onset epileptic encephalopathy including infantile spasms. 23756444 2014
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 Biomarker disease BEFREE Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms). 24236044 2013
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. 22867051 2012
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in epileptic encephalopathies in females with infantile spasms with features that overlap with Rett syndrome. 22678952 2012
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Mutations in the human CDKL5 gene have been shown to cause infantile spasms, as well as Rett syndrome-like phenotype. 21107515 2011
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Mutations of the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause an X-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a Rett syndrome (RTT)-like phenotype. 19780792 2010
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause severe neurodevelopmental disorders including infantile spasms, encephalopathy, West-syndrome and an early-onset variant of Rett syndrome. 19740913 2009
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Noteworthy, the CDKL5 mutation rate is high (28%) in women with early-onset seizures and IS. 19793311 2009
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE In conclusion, our report show that search for mutations in CDKL5 is indicated in girls with early onset of a severe intractable seizure disorder or infantile spasms with severe hypotonia, and in girls with RTT-like phenotype and early onset seizures, though, in our cohort, mutations in CDKL5 account for about 10% of the girls affected by these disorders. 18790821 2008
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms. 17993579 2008
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 Biomarker disease BEFREE Importantly, one member of the family, CDKL5, has been implicated in atypical Rett syndrome, West syndrome, and X-linked infantile spasm, all including MR as a manifestation. 18412109 2008
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE A screen for CDKL5 mutations is useful in patients, mainly females, with a history of early onset intractable seizures and becomes mandatory when idiopathic infantile spasms and/or atypical Rett syndrome features are also present. 17049193 2007
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 Biomarker disease BEFREE Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West syndrome or infantile spasms. 16806828 2006
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 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: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. 16935860 2006
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. 16611748 2006
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 Biomarker disease BEFREE The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). 15689447 2005
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE X-linked cyclin-dependent kinase-like 5 (CDKL5 or STK9) has recently been implicated in atypical Rett and X-linked West syndromes, severe neurological disorders associated with mental retardation, loss of communication and motor skills and infantile spasms and seizures in predominantly females. 16330482 2005
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Here, we report that de novo missense mutations in CDKL5 are associated with a severe phenotype of early-onset infantile spasms and clinical features that overlap those of other neurodevelopmental disorders, such as Rett syndrome and Angelman syndrome. 15499549 2004
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 GeneticVariation disease BEFREE Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925 2004
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.200 CausalMutation disease CLINVAR