Gene: CDKL5

Alternate names for this Gene: CFAP247|DEE2|EIEE2|ISSX|STK9

Gene Summary: This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.13

Description of this Gene: cyclin dependent kinase like 5

Type of Gene: protein-coding

rs122460159 in CDKL5 gene and Cyclin-dependent kinase-like 5 deficiency PMID 19793311 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

PMID 27848944 2017 Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

PMID 25819767 2015 Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.

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

PMID 22678952 2012 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

PMID 19780792 2010 Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

PMID 27734276 2017 Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.

PMID 29444904 2018 Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.

PMID 22872100 2013 The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

PMID 21482751 2011 Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 27187038 2016 Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

PMID 21770923 2011 CDKL5 alterations lead to early epileptic encephalopathy in both genders.

PMID 25266480 2014 Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

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

PMID 20602487 2010 Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

PMID 16330482 2005 CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

PMID 23236174 2012 Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.

PMID 28837158 2018 High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

PMID 22779007 2012 What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

PMID 19161156 2009 A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

PMID 22922712 2012 CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

PMID 22670135 2012 CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

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.

rs1555951981 in CDKL5 gene and Dysmorphic features PMID 22670135 2012 CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

PMID 19793311 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

PMID 21775177 2011 Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

PMID 26708753 2016 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

PMID 22678952 2012 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

PMID 22779007 2012 What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

PMID 24916645 2015 GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

PMID 23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.

PMID 27528505 2016 Functional abilities in children and adults with the CDKL5 disorder.

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

PMID 18266744 2008 The three stages of epilepsy in patients with CDKL5 mutations.

PMID 22872100 2013 The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

PMID 25266480 2014 Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

PMID 23151060 2013 Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.

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

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

PMID 19471977 2009 Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

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.

rs4825261 in CDKL5 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs1555951954 in CDKL5 gene and Muscle hypotonia PMID 23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.

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

PMID 22872100 2013 The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

PMID 25266480 2014 Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

PMID 27528505 2016 Functional abilities in children and adults with the CDKL5 disorder.

PMID 26708753 2016 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

PMID 22670135 2012 CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

PMID 24916645 2015 GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

PMID 22678952 2012 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

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

PMID 19793311 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

PMID 19471977 2009 Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

PMID 23151060 2013 Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.

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

PMID 22779007 2012 What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

PMID 21775177 2011 Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

PMID 18266744 2008 The three stages of epilepsy in patients with CDKL5 mutations.