| Reference |
Sentence |
Publish Date |
Extraction Date |
Species |
| Joni N Saby, Sarika U Peters, Timothy A Benke, Shannon M Standridge, Lindsay C Swanson, David N Lieberman, Heather E Olson, Alexandra P Key, Alan K Percy, Jeffrey L Neul, Charles A Nelson, Timothy P L Roberts, Eric D Mars. Comparison of evoked potentials across four related developmental encephalopathies. Journal of neurodevelopmental disorders vol 15 issue 1 2023 36870948 |
we have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in rett syndrome and cdkl5 deficiency disorder. |
2023-03-04 |
2023-03-06 |
Not clear |
| Kishan Vyas, Hannah Luedke, Benjamin Ruban-Fel. Nordic treatment guidelines for rare epileptic conditions: A literature review. Brain and behavior vol issue 2022 35765698 |
the onset of severe, drug-resistant seizures in early childhood is characteristic of the rare epileptic disorders lennox-gastaut syndrome (lgs), dravet syndrome (ds), and cdkl5 deficiency disorder (cdd) and is frequently observed in the rare genetic conditions tuberous sclerosis complex (tsc) and rett syndrome (rtt). |
2022-06-29 |
2023-01-27 |
Not clear |
| N Van der Aa, M Van den Bergh, N Ponomarenko, L Verstraete, B Ceulemans, K Stor. Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. Molecular syndromology vol 1 issue 6 2021 22190898 |
our findings stress the importance of foxg1 analysis in male patients with rett syndrome and in female patients when mutations in the mecp2 and cdkl5 genes have been excluded. |
2021-10-21 |
2023-01-25 |
Not clear |
| M Zweier, A Rauc. The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. Molecular syndromology vol 2 issue 3-5 2021 22670137 |
the phenotypic overlap with rett syndrome is explained by a shared pathway and, accordingly, diminished mecp2 and cdkl5 expression is measureable in patients with mef2c defects. |
2021-10-21 |
2023-01-25 |
Not clear |
| Daniela Kluckova, Miriam Kolnikova, Veronika Medova, Csaba Bognar, Tomas Foltan, Lucia Svecova, Andrej Gnip, Ludevit Kadasi, Andrea Soltysova, Andrej Fice. Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients. Epilepsy research vol 176 issue 2021 34229227 |
cdkl5 deficiency disorder (cdd) is an independent clinical entity associated with early-onset encephalopathy, which is often considered the type of epileptic encephalopathy with cdkl5 mutation also found in children diagnosed with early-onset seizure (hanefeld) type of rett syndrome, epileptic spasms, west syndrome, lennox-gastaut syndrome, or autism. |
2021-09-20 |
2023-01-26 |
Not clear |
| Joni N Saby, Sarika U Peters, Timothy P L Roberts, Charles A Nelson, Eric D Mars. Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research. Frontiers in integrative neuroscience vol 14 issue 2021 32547374 |
in addition to summarizing the human work on rett syndrome, we also describe relevant studies with animal models and the limited research that has been carried out on rett-related disorders, particularly methyl-cpg binding protein 2 (mecp2) duplication syndrome, cdkl5 deficiency disorder, and foxg1 disorder. |
2021-09-03 |
2023-01-26 |
human |
| Merrick S Fallah, James H Eubank. Seizures in Mouse Models of Rare Neurodevelopmental Disorders. Neuroscience vol 445 issue 2021 32059984 |
this review aims to assess whether models of rett syndrome, cdkl5 deficiency disorder, fragile-x syndrome, dravet syndrome, and ohtahara syndrome phenocopy the seizures seen in human patients. |
2021-05-14 |
2023-01-26 |
Not clear |
| Riccardo Pizzo, Antonia Gurgone, Enrico Castroflorio, Elena Amendola, Cornelius Gross, Marco Sasso\\xc3\\xa8-Pognetto, Maurizio Giustett. Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex. Frontiers in cellular neuroscience vol 10 issue 2020 27965538 |
cyclin-dependent kinase-like 5 (cdkl5) mutations are found in severe neurodevelopmental disorders, including the hanefeld variant of rett syndrome (rtt; cdkl5 disorder). |
2020-09-29 |
2023-01-26 |
human |
| Smita Jagtap, Jessica M Thanos, Ting Fu, Jennifer Wang, Jasmin Lalonde, Thomas O Dial, Ariel Feiglin, Jeffrey Chen, Isaac Kohane, Jeannie T Lee, Steven D Sheridan, Roy H Perli. Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome. Human molecular genetics vol 28 issue 21 2020 31518399 |
aberrant mitochondrial function in patient-derived neural cells from cdkl5 deficiency disorder and rett syndrome. |
2020-05-26 |
2023-01-26 |
Not clear |
| Smita Jagtap, Jessica M Thanos, Ting Fu, Jennifer Wang, Jasmin Lalonde, Thomas O Dial, Ariel Feiglin, Jeffrey Chen, Isaac Kohane, Jeannie T Lee, Steven D Sheridan, Roy H Perli. Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome. Human molecular genetics vol 28 issue 21 2020 31518399 |
the x-linked neurodevelopmental diseases cdkl5 deficiency disorder (cdd) and rett syndrome (rtt) are associated with intellectual disability, infantile spasms and seizures. |
2020-05-26 |
2023-01-26 |
Not clear |
| Shilpa D Kadam, Brennan J Sullivan, Archita Goyal, Mary E Blue, Constance Smith-Hick. Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic. International journal of molecular sciences vol 20 issue 20 2020 31618813 |
rett syndrome and cdkl5 deficiency disorder: from bench to clinic. |
2020-02-20 |
2023-01-26 |
Not clear |
| Shilpa D Kadam, Brennan J Sullivan, Archita Goyal, Mary E Blue, Constance Smith-Hick. Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic. International journal of molecular sciences vol 20 issue 20 2020 31618813 |
rett syndrome (rtt) and cdkl5 deficiency disorder (cdd) are two rare x-linked developmental brain disorders with overlapping but distinct phenotypic features. |
2020-02-20 |
2023-01-26 |
Not clear |
| S Vidal, N Brandi, P Pacheco, J Maynou, G Fernandez, C Xiol, A Pascual-Alonso, M Pineda, J Armstron. The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol 23 issue 4 2019 31105003 |
rett syndrome (rtt) is an early-onset neurodevelopmental disorder that is caused by mutations in the mecp2 gene; however, defects in other genes (cdkl5 and foxg1) can lead to presentations that resemble classic rtt, although they are not completely identical. |
2019-11-18 |
2023-01-26 |
Not clear |
| Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Bara\\xc3\\xb1ano, Ali Fatemi, SakkuBai Naid. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics vol 19 issue 1 2019 29322350 |
rett syndrome (rtt) is caused by mutations in methyl-cpg-binding protein 2 (mecp2), but defects in a handful of other genes (e.g., cdkl5, foxg1, mef2c) can lead to presentations that resemble, but do not completely mirror, classical rtt. |
2019-10-03 |
2023-01-26 |
Not clear |
| Peter Canning, Kwangjin Park, Jo\\xc3\\xa3o Gon\\xc3\\xa7alves, Chunmei Li, Conor J Howard, Timothy D Sharpe, Liam J Holt, Laurence Pelletier, Alex N Bullock, Michel R Lerou. CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function. Cell reports vol 22 issue 4 2019 29420175 |
human cdkl5, linked to rett syndrome, also localizes to cilia, and it impairs ciliogenesis when overexpressed. |
2019-07-15 |
2023-01-26 |
human |
| Yuka Mori, Jenny Downs, Kingsley Wong, Jane Heyworth, Helen Leonar. Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability. Journal of autism and developmental disorders vol 48 issue 5 2019 29192378 |
using the short form 12 health survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; down syndrome, rett syndrome and the cdkl5 disorder. |
2019-06-03 |
2023-01-26 |
Not clear |
| Yuka Mori, Jenny Downs, Kingsley Wong, Jane Heyworth, Helen Leonar. Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability. Journal of autism and developmental disorders vol 48 issue 5 2019 29192378 |
data were sourced from the western australian down syndrome (n\xe2\x80\x89=\xe2\x80\x89291), australian rett syndrome (n\xe2\x80\x89=\xe2\x80\x89187) and international cdkl5 disorder (n\xe2\x80\x89=\xe2\x80\x89168) databases. |
2019-06-03 |
2023-01-26 |
Not clear |
| Marta Vitorino, N\\xc3\\xaddia Cunha, Nat\\xc3\\xa9rcia Concei\\xc3\\xa7\\xc3\\xa3o, M Leonor Cancel. Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome. Molecular biology reports vol 45 issue 4 2019 29752575 |
expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical rett syndrome. |
2019-04-29 |
2023-01-26 |
zebrafish |
| Marta Vitorino, N\\xc3\\xaddia Cunha, Nat\\xc3\\xa9rcia Concei\\xc3\\xa7\\xc3\\xa3o, M Leonor Cancel. Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome. Molecular biology reports vol 45 issue 4 2019 29752575 |
atypical rett syndrome is a child neurodevelopmental disorder induced by mutations in cdkl5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. |
2019-04-29 |
2023-01-26 |
zebrafish |
| Marta Vitorino, N\\xc3\\xaddia Cunha, Nat\\xc3\\xa9rcia Concei\\xc3\\xa7\\xc3\\xa3o, M Leonor Cancel. Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome. Molecular biology reports vol 45 issue 4 2019 29752575 |
the expression patterns of cdkl5 in zebrafish is in accordance with the tissues known to be affected in humans and associated to symptoms and deficits observed in rett syndrome patients thus providing the first evidence that zebrafish could be an alternative model to study the molecular pathways of this disease as well as to test possible therapeutic approaches capable of rescuing the phenotype. |
2019-04-29 |
2023-01-26 |
zebrafish |