| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Eveline E O Hagebeuk, Carlo L Marcelis, Mariëlle Alders, Ageeth Kaspers, Al W de Weer. Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation. Journal of child neurology. vol 30. issue 11. 2016-06-17. PMID:25762588. |
clinically cdkl5 patients resemble those with rett syndrome, caused by a mecp2 mutation, who experience a regression, after an initial normal development. |
2016-06-17 |
2023-08-13 |
Not clear |
| Alessandra Pecorelli, Giuseppe Belmonte, Ilaria Meloni, Franco Cervellati, Concetta Gardi, Claudia Sticozzi, Claudio De Felice, Cinzia Signorini, Alessio Cortelazzo, Silvia Leoncini, Lucia Ciccoli, Alessandra Renieri, Henry Jay Forman, Joussef Hayek, Giuseppe Valacch. Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder. Free radical biology & medicine. vol 86. 2016-06-03. PMID:26006105. |
cdkl5 mutation is associated with an atypical rett syndrome (rtt) variant. |
2016-06-03 |
2023-08-13 |
Not clear |
| Silvia Leoncini, Claudio De Felice, Cinzia Signorini, Gloria Zollo, Alessio Cortelazzo, Thierry Durand, Jean-Marie Galano, Roberto Guerranti, Marcello Rossi, Lucia Ciccoli, Joussef Haye. Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs. Oxidative medicine and cellular longevity. vol 2015. 2016-04-08. PMID:26236424. |
an involvement of the immune system has been suggested in rett syndrome (rtt), a devastating neurodevelopmental disorder related to oxidative stress, and caused by a mutation in the methyl-cpg binding protein 2 gene (mecp2) or, more rarely, cyclin-dependent kinase-like 5 (cdkl5). |
2016-04-08 |
2023-08-13 |
Not clear |
| Annio Posar, Raffaella Faggioli, Paola Viscont. Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature. Journal of pediatric neurosciences. vol 10. issue 3. 2015-11-11. PMID:26557170. |
the phenotype of cyclin-dependent kinase-like 5 (cdkl5) syndrome includes rett syndrome variant with early onset seizures, early onset epileptic encephalopathy; and severe developmental delay. |
2015-11-11 |
2023-08-13 |
Not clear |
| Gabriella Livide, Tommaso Patriarchi, Mariangela Amenduni, Sonia Amabile, Dag Yasui, Eleonora Calcagno, Caterina Lo Rizzo, Giulia De Falco, Cristina Ulivieri, Francesca Ariani, Francesca Mari, Maria Antonietta Mencarelli, Johannes Wilhelm Hell, Alessandra Renieri, Ilaria Melon. GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. European journal of human genetics : EJHG. vol 23. issue 2. 2015-09-29. PMID:24916645. |
rett syndrome is a monogenic disease due to de novo mutations in either mecp2 or cdkl5 genes. |
2015-09-29 |
2023-08-13 |
Not clear |
| Anna Maria Papini, Francesca Nuti, Feliciana Real-Fernandez, Giada Rossi, Caterina Tiberi, Giuseppina Sabatino, Shashank Pandey, Silvia Leoncini, Cinzia Signorini, Alessandra Pecorelli, Roberto Guerranti, Solange Lavielle, Lucia Ciccoli, Paolo Rovero, Claudio De Felice, Joussef Haye. Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction. Journal of immunology research. vol 2014. 2015-06-22. PMID:25389532. |
rett syndrome (rtt), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-cpg binding protein 2 (mecp2) and, more rarely, cyclin-dependent kinase-like 5 (cdkl5) and forkhead box protein g1 (foxg1). |
2015-06-22 |
2023-08-13 |
human |
| Paolo La Montanara, Laura Rusconi, Albina Locarno, Lia Forti, Isabella Barbiero, Marco Tramarin, Chetan Chandola, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5. The Journal of biological chemistry. vol 290. issue 7. 2015-05-08. PMID:25555910. |
mutations in the x-linked cdkl5 (cyclin-dependent kinase-like 5) gene have been associated with several forms of neurodevelopmental disorders, including atypical rett syndrome, autism spectrum disorders, and early infantile epileptic encephalopathy. |
2015-05-08 |
2023-08-13 |
mouse |
| Laurie E Seltzer, Alex R Paciorkowsk. Genetic disorders associated with postnatal microcephaly. American journal of medical genetics. Part C, Seminars in medical genetics. vol 166C. issue 2. 2015-01-26. PMID:24839169. |
among these are classic disorders such as angelman syndrome and mecp2-related disorder (formerly rett syndrome), as well as more recently described clinical entities associated with mutations in cask, cdkl5, crebbp, and ep300 (rubinstein-taybi syndrome), foxg1, slc9a6 (christianson syndrome), and tcf4 (pitt-hopkins syndrome). |
2015-01-26 |
2023-08-13 |
Not clear |
| Bertrand Diebold, Chloé Delépine, Svetlana Gataullina, Andrée Delahaye, Juliette Nectoux, Thierry Bienven. Mutations in the C-terminus of CDKL5: proceed with caution. European journal of human genetics : EJHG. vol 22. issue 2. 2015-01-20. PMID:23756444. |
it is probable that screening of exons 19-21 of the cdkl5 gene is not useful in practical molecular diagnosis of atypical rett syndrome. |
2015-01-20 |
2023-08-12 |
human |
| Elena Amendola, Yang Zhan, Camilla Mattucci, Enrico Castroflorio, Eleonora Calcagno, Claudia Fuchs, Giuseppina Lonetti, Davide Silingardi, Alexei L Vyssotski, Dominika Farley, Elisabetta Ciani, Tommaso Pizzorusso, Maurizio Giustetto, Cornelius T Gros. Mapping pathological phenotypes in a mouse model of CDKL5 disorder. PloS one. vol 9. issue 5. 2015-01-10. PMID:24838000. |
mutations in cyclin-dependent kinase-like 5 (cdkl5) cause early-onset epileptic encephalopathy, a neurodevelopmental disorder with similarities to rett syndrome. |
2015-01-10 |
2023-08-13 |
mouse |
| Ying Zhao, Xiaoying Zhang, Xinhua Bao, Qingping Zhang, Jingjing Zhang, Guangna Cao, Jie Zhang, Jiarui Li, Liping Wei, Hong Pan, Xiru W. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC medical genetics. vol 15. 2014-04-21. PMID:24564546. |
mutations in the cyclin-dependent kinase-like 5 (cdkl5) (nm_003159.2) gene have been associated with early-onset epileptic encephalopathies or hanefeld variants of rtt(rett syndrome). |
2014-04-21 |
2023-08-12 |
Not clear |
| Erica Leitão Ermel, Lauriane Caroline Carneiro, Carolina Fischinger Moura de Souza, Ana Chrystina de Souza Crippa, Maria Teresa Vieira Sanseverino, Salmo Raski. Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. Arquivos de neuro-psiquiatria. vol 71. issue 6. 2014-01-23. PMID:23828526. |
epileptic encephalopathy and atypical rett syndrome with mutations in cdkl5: clinical and molecular characterization of two brazilian patients. |
2014-01-23 |
2023-08-12 |
Not clear |
| Monika Go. Epigenetic mechanisms of gene expression regulation in neurological diseases. Acta neurobiologiae experimentalis. vol 73. issue 1. 2013-12-10. PMID:23595281. |
one of the best known diseases linked to defects in epigenetic modifiers is rett syndrome caused by a mutation in the mecp2 gene or its variant - rett-like syndrome caused by a mutation in cdkl5 or foxg1 genes. |
2013-12-10 |
2023-08-12 |
Not clear |
| Carolyn J Ellaway, Gladys Ho, Elisa Bettella, Alisa Knapman, Felicity Collins, Anna Hackett, Fiona McKenzie, Artur Darmanian, Gregory B Peters, Kerry Fagan, John Christodoulo. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European journal of human genetics : EJHG. vol 21. issue 5. 2013-10-17. PMID:22968132. |
mutations in the cdkl5 gene have been associated with the early-onset seizure variant of rett syndrome and mutations in foxg1 have been associated with the congenital rett syndrome variant. |
2013-10-17 |
2023-08-12 |
Not clear |
| Stephanie Fehr, Meredith Wilson, Jenny Downs, Simon Williams, Alessandra Murgia, Stefano Sartori, Marilena Vecchi, Gladys Ho, Roberta Polli, Stavroula Psoni, Xinhua Bao, Nick de Klerk, Helen Leonard, John Christodoulo. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European journal of human genetics : EJHG. vol 21. issue 3. 2013-09-20. PMID:22872100. |
this study uses a large international data collection to describe the clinical profile of the cdkl5 disorder and compare with rett syndrome (rtt). |
2013-09-20 |
2023-08-12 |
Not clear |
| Dhanjit Kumar Das, Bhakti Mehta, Shyla R Menon, Sarbani Raha, Vrajesh Udan. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular medicine. vol 15. issue 1. 2013-08-29. PMID:23242510. |
novel mutations in cyclin-dependent kinase-like 5 (cdkl5) gene in indian cases of rett syndrome. |
2013-08-29 |
2023-08-12 |
Not clear |
| Dhanjit Kumar Das, Bhakti Mehta, Shyla R Menon, Sarbani Raha, Vrajesh Udan. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular medicine. vol 15. issue 1. 2013-08-29. PMID:23242510. |
mutations in the x-linked cyclin-dependent kinase-like 5 (cdkl5) gene have been identified in patients with atypical rett syndrome, x-linked infantile spasms sharing common features of generally early-onset seizures and mental retardation. |
2013-08-29 |
2023-08-12 |
Not clear |
| Dhanjit Kumar Das, Bhakti Mehta, Shyla R Menon, Sarbani Raha, Vrajesh Udan. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular medicine. vol 15. issue 1. 2013-08-29. PMID:23242510. |
we have screened the cdkl5 gene in 44 patients with atypical rett syndrome who had tested negative for mecp2 gene mutations and have identified 6 sequence variants, out of which three were novel and three known mutations. |
2013-08-29 |
2023-08-12 |
Not clear |
| Dhanjit Kumar Das, Bhakti Mehta, Shyla R Menon, Sarbani Raha, Vrajesh Udan. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular medicine. vol 15. issue 1. 2013-08-29. PMID:23242510. |
this is the first report from india showing the mutation in cdkl5 gene in indian cases of rett syndrome. |
2013-08-29 |
2023-08-12 |
Not clear |
| Dhanjit Kumar Das, Bhakti Mehta, Shyla R Menon, Sarbani Raha, Vrajesh Udan. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular medicine. vol 15. issue 1. 2013-08-29. PMID:23242510. |
our study emphasizes the role of cdkl5 mutation screening in cases of atypical rett syndrome with congenital seizure variant. |
2013-08-29 |
2023-08-12 |
Not clear |