Condition: Cyclin-dependent kinase-like 5 deficiency


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.