Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 2025
Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.
Martín ME et al.
Seizure, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.
Ivaniuk A et al.
Genetics in Medicine Open, 2024
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
Pascual-Alonso A et al.
Human Genomics, 2023
CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.
Darra F et al.
Epilepsy Research, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.
Blazekovic A et al.
Genes, 2022
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H et al.
The Lancet. Neurology, 2022
Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies.
Iyer GR et al.
Annals of Human Genetics, 2022
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
Amin S et al.
Frontiers in Neurology, 2022
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI et al.
Clinical Genetics, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.
Katayama S et al.
Neural Plasticity, 2020
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE et al.
Pediatric Neurology, 2019
Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.
Muñoz IM et al.
The Embo Journal, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K et al.
Seizure, 2018
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Stosser MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
Zhang Q et al.
Clinical Genetics, 2017
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Ortega-Moreno L et al.
Plos One, 2017
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
Kobayashi Y et al.
Brain & Development, 2016
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto T et al.
Human Genome Variation, 2015
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
Zhao Y et al.
Bmc Medical Genetics, 2014
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H et al.
Epilepsia, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Bahi-Buisson N et al.
American Journal of Medical Genetics. Part A, 2012
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
Kilstrup-Nielsen C et al.
Neural Plasticity, 2012
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS et al.
Epilepsia, 2011
[Molecular basis of Rett syndrome: A current look].
Pantaleón F G et al.
Revista Chilena De Pediatria, 0