Get started
Keyword

CDKL5

Description: CDKL5 is a human protein-coding gene involved in nervous system development and function, with variants associated with neurological disorders.
Wikidata ID: wiki/Q14907954
OpenAlex ID: keywords/cdkl5
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
2012 · Michael E. Talkowski, Jill A. Rosenfeld, et al. · Cell · 577
PDF
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation
2004 · Linda S. Weaving, John Christodoulou, et al. · The American Journal of Human Genetics · 502
PDF
De novo genic mutations among a Chinese autism spectrum disorder cohort
2016 · Tianyun Wang, Hui Guo, et al. · Nature Communications · 370
PDF
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
2016 · Ryan N. Doan, Byoung-Il Bae, et al. · Cell · 352
PDF
Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation
2004 · Jiong Tao, Hilde Van Esch, et al. · The American Journal of Human Genetics · 321
PDF
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
2005 · Francesca Mari, Sara Azimonti, et al. · Human Molecular Genetics · 318
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
2018 · Amanda S. Lindy, Mary Beth Stosser, et al. · Epilepsia · 305
PDF
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
2013 · Krishna R. Veeramah, Laurel Johnstone, et al. · Epilepsia · 293
PDF
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons
2012 · Sara Ricciardi, Federica Ungaro, et al. · Nature Cell Biology · 266
PDF
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
2005 · E Scala, F Ariani, et al. · Journal of Medical Genetics · 241
PDF
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice
2012 · I-Ting Judy Wang, Megan Allen, et al. · Proceedings of the National Academy of Sciences · 220
PDF
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
2016 · Natalie Trump, Amy McTague, et al. · Journal of Medical Genetics · 215
PDF
Severe myoclonic epilepsy in infancy (Dravet syndrome)
2004 · Natalio Fejerman · CRC Press eBooks · 214
CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail
2008 · Laura Rusconi, Lisa Salvatoni, et al. · Journal of Biological Chemistry · 202
PDF
Potential Clinical Benefits of CBD-Rich Cannabis Extracts Over Purified CBD in Treatment-Resistant Epilepsy: Observational Data Meta-analysis
2018 · Fabricio A. Pamplona, Lorenzo Rolim da Silva, et al. · Frontiers in Neurology · 190
PDF
CDKL5, a Protein Associated with Rett Syndrome, Regulates Neuronal Morphogenesis via Rac1 Signaling
2010 · Qian Chen, Yong-Chuan Zhu, et al. · Journal of Neuroscience · 181
PDF
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
2010 · Markus Zweier, Anne Gregor, et al. · Human Mutation · 180
PDF
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage ofXLMRgenes
2007 · Guy Froyen, Hilde Van Esch, et al. · Human Mutation · 177
PDF
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
2011 · C. P. Schaaf, A. Sabo, et al. · Human Molecular Genetics · 175
PDF
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
2018 · Alba Sanchis-Juan, Jonathan Stephens, et al. · Genome Medicine · 173
PDF
Early onset seizures and Rett-like features associated with mutations in CDKL5
2005 · Julie C Evans, Hayley L Archer, et al. · European Journal of Human Genetics · 173
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
2017 · Mary Beth Stosser, Amanda S. Lindy, et al. · Genetics in Medicine · 172
PDF
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2016 · Elena Parrini, Carla Marini, et al. · Human Mutation · 163
Epilepsy and developmental disorders: Next generation sequencing in the clinic
2019 · Joseph D. Symonds, Amy McTague · European Journal of Paediatric Neurology · 151
PDF
Functional Consequences of Mutations in CDKL5, an X-linked Gene Involved in Infantile Spasms and Mental Retardation
2006 · Ilaria Bertani, Laura Rusconi, et al. · Journal of Biological Chemistry · 149
Works count: 733
Citation count: 16,410
Year
Topic
Type