Variant: rs267608468 

    present in Gene: CDKL5
    present in Chromosome: X
    Position on Chromosome: 18579945
    Alleles of this Variant: A/G

rs267608468 in CDKL5 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 PMID 15689447 2005 CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 16015284 2005 Early onset seizures and Rett-like features associated with mutations in CDKL5.

PMID 24564546 2014 Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

PMID 17993579 2008 Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

PMID 19241098 2009 Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.

PMID 18809835 2008 CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

PMID 19253388 2009 A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

PMID 15492925 2004 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

PMID 16935860 2006 Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 18790821 2008 Key clinical features to identify girls with CDKL5 mutations.

PMID 15917271 2005 CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

PMID 16611748 2006 CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

PMID 12736870 2003 Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 15499549 2004 Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.