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Zeitschriftenartikel zum Thema „CDKL deficiency disorder“

Autor: Grafiati

Veröffentlicht am 14. März 2023

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1

Mukhin, K. Yu, O. A. Pylaeva, M. Yu Bobylova, and V. A. Chadaev. "Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations." Russian Journal of Child Neurology 16, no. 1-2 (2021): 10–41. http://dx.doi.org/10.17650/2073-8803-2021-16-1-2-10-41.

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The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”. This disorder is a complex combination of symptoms that develop due to deficiency or absence of the CDKL5 gene product, which is serine/threonine kinase. The CDKL5 gene is located on X chromosome; the disease has an X-linked dominant inheritance pattern. This literature review summarizes relevant st

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Demarest, Scott, Elia M. Pestana-Knight, Heather E. Olson, et al. "Severity Assessment in CDKL5 Deficiency Disorder." Pediatric Neurology 97 (August 2019): 38–42. http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.017.

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3

Kadam, Shilpa D., Brennan J. Sullivan, Archita Goyal, Mary E. Blue, and Constance Smith-Hicks. "Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic." International Journal of Molecular Sciences 20, no. 20 (2019): 5098. http://dx.doi.org/10.3390/ijms20205098.

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Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked developmental brain disorders with overlapping but distinct phenotypic features. This review examines the impact of loss of methyl-CpG-binding protein 2 (MeCP2) and cyclin-dependent kinase-like 5 (CDKL5) on clinical phenotype, deficits in synaptic- and circuit-homeostatic mechanisms, seizures, and sleep. In particular, we compare the overlapping and contrasting features between RTT and CDD in clinic and in preclinical studies. Finally, we discuss lessons learned from recent clinical trials while reviewing the finding

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Jakimiec, Martyna, Justyna Paprocka, and Robert Śmigiel. "CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy." Brain Sciences 10, no. 2 (2020): 107. http://dx.doi.org/10.3390/brainsci10020107.

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CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional CDKL5 protein, i.e., serine-threonine kinase (previously referred to as STK9), or its complete absence. The clinical picture is characterized by epileptic seizures (that start within the first three months of life and most often do not respond to pharmacological treatment), epileptic encephalopathy secondary to seizures, and retardation of psychomotor development, which are often observed already in the first months of life. Due to the fact that CDKL5 is located on the X chromosome,

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Brock, Dylan, Andrea Fidell, Jacob Thomas, Elizabeth Juarez-Colunga, Tim A. Benke, and Scott Demarest. "Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement." Journal of Child Neurology 36, no. 11 (2021): 974–80. http://dx.doi.org/10.1177/08830738211019284.

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Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder is a rare neurodevelopmental disorder characterized by infantile-onset refractory epilepsy, profound developmental delays, and cerebral visual impairment. Although there is evidence that the presence of cerebral visual impairment in CDKL5 deficiency disorder is common, the potential impact of cerebral visual impairment severity on developmental attainment has not been explored directly. Focusing on a cohort of 46 children with CDKL5 deficiency disorder, examination features indicative of cerebral visual impairment were quantified and c

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Jhang, Cian-Ling, Hom-Yi Lee, Jin-Chung Chen, and Wenlin Liao. "Dopaminergic loss of cyclin-dependent kinase-like 5 recapitulates methylphenidate-remediable hyperlocomotion in mouse model of CDKL5 deficiency disorder." Human Molecular Genetics 29, no. 14 (2020): 2408–19. http://dx.doi.org/10.1093/hmg/ddaa122.

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Abstract Cyclin-dependent kinase-like 5 (CDKL5), a serine-threonine kinase encoded by an X-linked gene, is highly expressed in the mammalian forebrain. Mutations in this gene cause CDKL5 deficiency disorder, a neurodevelopmental encephalopathy characterized by early-onset seizures, motor dysfunction, and intellectual disability. We previously found that mice lacking CDKL5 exhibit hyperlocomotion and increased impulsivity, resembling the core symptoms in attention-deficit hyperactivity disorder (ADHD). Here, we report the potential neural mechanisms and treatment for hyperlocomotion induced by

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Barbiero, Isabella, Roberta De Rosa, and Charlotte Kilstrup-Nielsen. "Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?" International Journal of Molecular Sciences 20, no. 17 (2019): 4075. http://dx.doi.org/10.3390/ijms20174075.

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CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy caused by mutations in the X-linked CDKL5 gene that encodes a serine/threonine kinase. CDD is characterised by the early onset of seizures and impaired cognitive and motor skills. Loss of CDKL5 in vitro and in vivo affects neuronal morphology at early and late stages of maturation, suggesting a link between CDKL5 and the neuronal cytoskeleton. Recently, various microtubule (MT)-binding proteins have been identified as interactors of CDKL5, indicating that its roles converge on regulating MT functioning. MTs are dynam

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La Montanara, Paolo, Arnau Hervera, Lucas L. Baltussen, et al. "Cyclin-dependent–like kinase 5 is required for pain signaling in human sensory neurons and mouse models." Science Translational Medicine 12, no. 551 (2020): eaax4846. http://dx.doi.org/10.1126/scitranslmed.aax4846.

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Cyclin-dependent–like kinase 5 (CDKL5) gene mutations lead to an X-linked disorder that is characterized by infantile epileptic encephalopathy, developmental delay, and hypotonia. However, we found that a substantial percentage of these patients also report a previously unrecognized anamnestic deficiency in pain perception. Consistent with a role in nociception, we found that CDKL5 is expressed selectively in nociceptive dorsal root ganglia (DRG) neurons in mice and in induced pluripotent stem cell (iPS)–derived human nociceptors. CDKL5-deficient mice display defective epidermal innervation, a

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Jagtap, Smita, Jessica M. Thanos, Ting Fu, et al. "Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome." Human Molecular Genetics 28, no. 21 (2019): 3625–36. http://dx.doi.org/10.1093/hmg/ddz208.

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Abstract The X-linked neurodevelopmental diseases CDKL5 deficiency disorder (CDD) and Rett syndrome (RTT) are associated with intellectual disability, infantile spasms and seizures. Although mitochondrial dysfunction has been suggested in RTT, less is understood about mitochondrial function in CDD. A comparison of bioenergetics and mitochondrial function between isogenic wild-type and mutant neural progenitor cell (NPC) lines revealed increased oxygen consumption in CDD mutant lines, which is associated with altered mitochondrial function and structure. Transcriptomic analysis revealed differe

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Gill, Deepak. "A potential new treatment for CDKL5 deficiency disorder." Lancet Neurology 21, no. 5 (2022): 394–95. http://dx.doi.org/10.1016/s1474-4422(22)00127-2.

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11

Rodak, Małgorzata, Mariola Jonderko, Patrycja Rozwadowska, Magdalena Machnikowska-Sokołowska, and Justyna Paprocka. "CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male." Children 9, no. 12 (2022): 1806. http://dx.doi.org/10.3390/children9121806.

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CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to be approximately 1: 40,000–60,000 live births. So far, 50 cases have been described in boys. The clinical course in males tends to be more severe and is often associated with death in the first or second decade of life. The authors present an unreported 2.5-year-old male patient with drug-resistant epilepsy who was diagnosed with a de novo mutation

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Peikes, Tyler, Jessica N. Hartley, Aizeddin A. Mhanni, Cheryl R. Greenberg, and Juan Pablo Appendino. "Reflex Seizures in a Patient with CDKL5 Deficiency Disorder." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, no. 04 (2019): 482–85. http://dx.doi.org/10.1017/cjn.2019.29.

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13

Morkous, Sameh S. "Quality Of Life in Individuals with CDKL5 Deficiency Disorder." Pediatric Neurology Briefs 36 (December 30, 2022): 5. http://dx.doi.org/10.15844/pedneurbriefs-36-5.

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14

Patnaik, Abhisarika, Eleonora Spiombi, Angelisa Frasca, Nicoletta Landsberger, Marta Zagrebelsky, and Martin Korte. "Fingolimod Modulates Dendritic Architecture in a BDNF-Dependent Manner." International Journal of Molecular Sciences 21, no. 9 (2020): 3079. http://dx.doi.org/10.3390/ijms21093079.

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The brain-derived neurotrophic factor (BDNF) plays crucial roles in both the developing and mature brain. Moreover, alterations in BDNF levels are correlated with the cognitive impairment observed in several neurological diseases. Among the different therapeutic strategies developed to improve endogenous BDNF levels is the administration of the BDNF-inducing drug Fingolimod, an agonist of the sphingosine-1-phosphate receptor. Fingolimod treatment was shown to rescue diverse symptoms associated with several neurological conditions (i.e., Alzheimer disease, Rett syndrome). However, the cellular

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15

De Rosa, Roberta De, Serena Valastro, Clara Cambria, et al. "Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether." International Journal of Molecular Sciences 24, no. 1 (2022): 68. http://dx.doi.org/10.3390/ijms24010068.

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CDKL5 deficiency disorder (CDD) is an X-linked neurodevelopmental disorder characterised by early-onset drug-resistant epilepsy and impaired cognitive and motor skills. CDD is caused by mutations in cyclin-dependent kinase-like 5 (CDKL5), which plays a well-known role in regulating excitatory neurotransmission, while its effect on neuronal inhibition has been poorly investigated. We explored the potential role of CDKL5 in the inhibitory compartment in Cdkl5-KO male mice and primary hippocampal neurons and found that CDKL5 interacts with gephyrin and collybistin, two crucial organisers of the i

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Katayama, Syouichi, Noriyuki Sueyoshi, Tetsuya Inazu, and Isamu Kameshita. "Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder." Neural Plasticity 2020 (June 5, 2020): 1–14. http://dx.doi.org/10.1155/2020/6970190.

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Cyclin-dependent kinase-like 5 (CDKL5, also known as STK9) is a serine/threonine protein kinase originally identified in 1998 during a transcriptional mapping project of the human X chromosome. Thereafter, a mutation in CDKL5 was reported in individuals with the atypical Rett syndrome, a neurodevelopmental disorder, suggesting that CDKL5 plays an important regulatory role in neuronal function. The disease associated with CDKL5 mutation has recently been recognised as CDKL5 deficiency disorder (CDD) and has been distinguished from the Rett syndrome owing to its symptomatic manifestation. Becaus

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Lupori, Leonardo, Giulia Sagona, Claudia Fuchs, et al. "Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder." Human Molecular Genetics 28, no. 17 (2019): 2851–61. http://dx.doi.org/10.1093/hmg/ddz102.

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Abstract CDKL5 deficiency disorder (CDD) is a neurodevelopmental disorder characterized by a severe global developmental delay and early-onset seizures. Notably, patients show distinctive visual abnormalities often clinically diagnosed as cortical visual impairment. However, the involvement of cerebral cortical dysfunctions in the origin of the symptoms is poorly understood. CDD mouse models also display visual deficits, and cortical visual responses can be used as a robust biomarker in CDKL5 mutant mice. A deeper understanding of the circuits underlying the described visual deficits is essent

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Hector, Ralph D., Vera M. Kalscheuer, Friederike Hennig, et al. "CDKL5 variants." Neurology Genetics 3, no. 6 (2017): e200. http://dx.doi.org/10.1212/nxg.0000000000000200.

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Objective:To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene.Methods:We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity.Results:The study has identified several variants that can be reclassified as benign or likely benign. With th

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Tassinari, Marianna, Nicola Mottolese, Giuseppe Galvani, et al. "Luteolin Treatment Ameliorates Brain Development and Behavioral Performance in a Mouse Model of CDKL5 Deficiency Disorder." International Journal of Molecular Sciences 23, no. 15 (2022): 8719. http://dx.doi.org/10.3390/ijms23158719.

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CDKL5 deficiency disorder (CDD), a rare and severe neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene, is characterized by early-onset epilepsy, intellectual disability, and autistic features. Although pharmacotherapy has shown promise in the CDD mouse model, safe and effective clinical treatments are still far off. Recently, we found increased microglial activation in the brain of a mouse model of CDD, the Cdkl5 KO mouse, suggesting that a neuroinflammatory state, known to be involved in brain maturation and neuronal dysfunctions, may contribute to the pathophysiology o

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Leonard, Helen, Mohammed Junaid, Kingsley Wong, Alex A. Aimetti, Elia Pestana Knight, and Jenny Downs. "Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder." Epilepsia 63, no. 2 (2021): 352–63. http://dx.doi.org/10.1111/epi.17125.

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21

MacKay, Conor I., David Bick, Jeremy W. Prokop, et al. "Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?" American Journal of Medical Genetics Part A 182, no. 5 (2020): 1217–22. http://dx.doi.org/10.1002/ajmg.a.61504.

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22

Hong, William, Isabel Haviland, Elia Pestana-Knight, et al. "CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment." CNS Drugs 36, no. 6 (2022): 591–604. http://dx.doi.org/10.1007/s40263-022-00921-5.

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23

Benke, Tim A., and Peter C. Kind. "Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder." Brain 143, no. 3 (2020): 716–18. http://dx.doi.org/10.1093/brain/awaa055.

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Demarest, Scott T., Heather E. Olson, Angela Moss, et al. "CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development." Epilepsia 60, no. 8 (2019): 1733–42. http://dx.doi.org/10.1111/epi.16285.

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25

Di Nardo, Alessia, Alina Rühmkorf, Patricia Award, Ashton Brennecke, Michela Fagiolini, and Mustafa Sahin. "Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder." Neuroscience Research 176 (March 2022): 73–78. http://dx.doi.org/10.1016/j.neures.2021.10.001.

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Loi, Manuela, Laura Gennaccaro, Claudia Fuchs та ін. "Treatment with a GSK-3β/HDAC Dual Inhibitor Restores Neuronal Survival and Maturation in an In Vitro and In Vivo Model of CDKL5 Deficiency Disorder". International Journal of Molecular Sciences 22, № 11 (2021): 5950. http://dx.doi.org/10.3390/ijms22115950.

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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause a rare neurodevelopmental disorder characterized by early-onset seizures and severe cognitive, motor, and visual impairments. To date there are no therapies for CDKL5 deficiency disorder (CDD). In view of the severity of the neurological phenotype of CDD patients it is widely assumed that CDKL5 may influence the activity of a variety of cellular pathways, suggesting that an approach aimed at targeting multiple cellular pathways simultaneously might be more effective for CDD. Previous findings showed that a single-targe

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Siri, Barbara, Costanza Varesio, Elena Freri, et al. "CDKL5 deficiency disorder in males: Five new variants and review of the literature." European Journal of Paediatric Neurology 33 (July 2021): 9–20. http://dx.doi.org/10.1016/j.ejpn.2021.04.007.

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Van Bergen, Nicole J., Sean Massey, Tegan Stait, et al. "Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder." Neurobiology of Disease 155 (July 2021): 105370. http://dx.doi.org/10.1016/j.nbd.2021.105370.

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Appendino, Juan Pablo. "Hypermotor-tonic-spasms seizure sequence related to CDKL5 deficiency disorder: a typical case." Epileptic Disorders 24, no. 6 (2022): 1–2. http://dx.doi.org/10.1684/epd.2022.1480.

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MacKay, Conor I., Kingsley Wong, Scott T. Demarest, Tim A. Benke, Jenny Downs, and Helen Leonard. "Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset." Clinical Genetics 99, no. 1 (2020): 157–65. http://dx.doi.org/10.1111/cge.13862.

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31

Dale, Tristan, Jenny Downs, Heather Olson, Ann Marie Bergin, Stephanie Smith, and Helen Leonard. "Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder." Epilepsy Research 151 (March 2019): 31–39. http://dx.doi.org/10.1016/j.eplepsyres.2019.02.001.

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Elagib, Kamaleldin E., Ivailo S. Mihaylov, Lorrie L. Delehanty, et al. "Cross-talk of GATA-1 and P-TEFb in megakaryocyte differentiation." Blood 112, no. 13 (2008): 4884–94. http://dx.doi.org/10.1182/blood-2008-03-145722.

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Abstract The transcription factor GATA-1 participates in programming the differentiation of multiple hematopoietic lineages. In megakaryopoiesis, loss of GATA-1 function produces complex developmental abnormalities and underlies the pathogenesis of megakaryocytic leukemia in Down syndrome. Its distinct functions in megakaryocyte and erythroid maturation remain incompletely understood. In this study, we identified functional and physical interaction of GATA-1 with components of the positive transcriptional elongation factor P-TEFb, a complex containing cyclin T1 and the cyclin-dependent kinase

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Bao, Junxiang, Guangbi Li, Xinxu Yuan, Pin-Lan Li, and Erich Gulbins. "Contribution of p62 to Phenotype Transition of Coronary Arterial Myocytes with Defective Autophagy." Cellular Physiology and Biochemistry 41, no. 2 (2017): 555–68. http://dx.doi.org/10.1159/000457877.

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Background: Autophagy disorder contributes to dedifferentiation of arterial smooth muscle cells, but the mechanisms are poorly understood. Here, we sought to investigate the role of scaffolding adaptor p62/SQSTM1 (p62) in phenotype switching of mouse coronary arterial myocytes (CAMs) induced by CD38 gene deficiency or lysosomal dysfunction which blocks autophagic flux in the cells. Methods: Protein expression was measured by western blot analysis and immunofluorescent staining. Cell cycle and proliferation rate were analyzed by flow cytometry and MTS assay respectively. mRNA abundance was test

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Frasca, Angelisa, Efterpi Pavlidou, Matteo Bizzotto, et al. "Not Just Loss-of-Function Variations." Neurology Genetics 8, no. 2 (2022): e666. http://dx.doi.org/10.1212/nxg.0000000000000666.

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Background and ObjectivesCDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linked CDKL5 gene coding for a kinase cause CDD. Molecular genetics has proved that almost all pathogenic missense substitutions localize in the N-terminal catalytic domain, therefore underlining the importance for brain development and functioning of the kinase activity. CDKL5 also features a long C-terminal domain that acts as negative regulator of the enzymatic activity and modulates its subcellular di

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Yennawar, Madhumita, Rachel S. White, and Frances E. Jensen. "AMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder." Journal of Neuroscience 39, no. 24 (2019): 4814–28. http://dx.doi.org/10.1523/jneurosci.2041-18.2019.

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Pizzo, R., A. Lamarca, M. Sassoè-Pognetto, and M. Giustetto. "Structural Bases of Atypical Whisker Responses in a Mouse Model of CDKL5 Deficiency Disorder." Neuroscience 445 (October 2020): 130–43. http://dx.doi.org/10.1016/j.neuroscience.2019.08.033.

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Lim, Zhan, Kingsley Wong, Jenny Downs, Keely Bebbington, Scott Demarest, and Helen Leonard. "Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder." Epilepsy Research 146 (October 2018): 36–40. http://dx.doi.org/10.1016/j.eplepsyres.2018.07.013.

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Saldaris, Jacinta M., Peter Jacoby, Helen Leonard, et al. "Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials." Epilepsy & Behavior 139 (February 2023): 109069. http://dx.doi.org/10.1016/j.yebeh.2022.109069.

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Yoshimura, Yuri, Atsushi Morii, Yuuki Fujino, et al. "Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain." International Journal of Molecular Sciences 23, no. 20 (2022): 12281. http://dx.doi.org/10.3390/ijms232012281.

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Cyclin-dependent kinase-like 5 (CDKL5) is a serine/threonine protein kinase whose pathological mutations cause CDKL5 deficiency disorder. Most missense mutations are concentrated in the catalytic domain. Therefore, anticipating whether mutations in this region affect CDKL5 function is informative for clinical diagnosis. This study comprehensively predicted the pathogenicity of all 5700 missense substitutions in the catalytic domain of CDKL5 using in silico analysis and evaluating their accuracy. Each missense substitution was evaluated as “pathogenic” or “benign”. In silico tools PolyPhen-2 Hu

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Devinsky, Orrin, LaToya King, Judith Bluvstein, and Daniel Friedman. "Ataluren for drug‐resistant epilepsy in nonsense variant‐mediated Dravet syndrome and CDKL5 deficiency disorder." Annals of Clinical and Translational Neurology 8, no. 3 (2021): 639–44. http://dx.doi.org/10.1002/acn3.51306.

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Dale, Tristan, Jenny Downs, Kingsley Wong, and Helen Leonard. "The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder." Epilepsy & Behavior 122 (September 2021): 108152. http://dx.doi.org/10.1016/j.yebeh.2021.108152.

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Kluckova, Daniela, Miriam Kolnikova, Veronika Medova, et al. "Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients." Epilepsy Research 176 (October 2021): 106699. http://dx.doi.org/10.1016/j.eplepsyres.2021.106699.

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Tangarorang, Jodilee, Helen Leonard, Amy Epstein, and Jenny Downs. "A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder." American Journal of Medical Genetics Part A 179, no. 2 (2018): 249–56. http://dx.doi.org/10.1002/ajmg.a.61012.

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Fuchs, Claudia, Laura Gennaccaro, Elisa Ren, et al. "Pharmacotherapy with sertraline rescues brain development and behavior in a mouse model of CDKL5 deficiency disorder." Neuropharmacology 167 (May 2020): 107746. http://dx.doi.org/10.1016/j.neuropharm.2019.107746.

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Leonard, Helen, Mohammed Junaid, Kingsley Wong, Scott Demarest, and Jenny Downs. "Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder." Epilepsy Research 169 (January 2021): 106521. http://dx.doi.org/10.1016/j.eplepsyres.2020.106521.

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Aledo-Serrano, Ángel, Patricia Gómez-Iglesias, Rafael Toledano, et al. "Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort." Epilepsy & Behavior 118 (May 2021): 107946. http://dx.doi.org/10.1016/j.yebeh.2021.107946.

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Talamo, M. C., M. Pellas, C. Urbinati, L. Cosentino, and B. De Filippis. "P.236 Inhibition of p21-activated kinase rescues disrupted phenotype in a mouse model of CDKL5 deficiency disorder." European Neuropsychopharmacology 31 (February 2020): S45—S46. http://dx.doi.org/10.1016/j.euroneuro.2019.12.062.

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Ademuwagun, Ibitayo Abigail, Gbolahan Oladipupo Oduselu, Solomon Oladapo Rotimi, and Ezekiel Adebiyi. "Pharmacophore-Aided Virtual Screening and Molecular Dynamics Simulation Identifies TrkB Agonists for Treatment of CDKL5-Deficiency Disorders." Bioinformatics and Biology Insights 17 (January 2023): 117793222311582. http://dx.doi.org/10.1177/11779322231158254.

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Therapeutic intervention in cyclin-dependent kinase-like 5 (CDKL5) deficiency disorders (CDDs) has remained a concern over the years. Recent advances into the mechanistic interplay of signalling pathways has revealed the role of deficient tropomyosin receptor kinase B (TrkB)/phospholipase C γ1 signalling cascade in CDD. Novel findings showed that in vivo administration of a TrkB agonist, 7,8-dihydroxyflavone (7,8-DHF), resulted in a remarkable reversal in the molecular pathologic mechanisms underlying CDD. Owing to this discovery, this study aimed to identify more potent TrkB agonists than 7,8

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Gorbenko Del Blanco, Darya, Laura C. G. de Graaff, Dirk Posthouwer, Theo J. Visser, and Anita C. S. Hokken-Koelega. "Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes." European Journal of Endocrinology 165, no. 4 (2011): 537–44. http://dx.doi.org/10.1530/eje-11-0478.

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ObjectiveIn most patients, the genetic cause of isolated GH deficiency (IGHD) is unknown. By identifying several genes associated with height variability within the normal population, three separate genome-wide association studies provided new candidate genes for human growth disorders. We selected two of them for genetic screening of our IGHD population.AimWe aimed to determine whether high-mobility group A2 (HMGA2) and cyclin-dependent protein kinase 6 (CDK6) are involved in the pathogenicity of IGHD.MethodsWe directly sequenced coding regions and exon–intron boundaries of the genesHMGA2andC

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Terzic, Barbara, Yue Cui, Andrew C. Edmondson, et al. "X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder." Neurobiology of Disease 148 (January 2021): 105176. http://dx.doi.org/10.1016/j.nbd.2020.105176.

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