Zobrazeno 1 - 10
of 945
pro vyhledávání: '"CDKL5"'
Autor:
Laura Simões de Oliveira, Heather E. O’Leary, Sarfaraz Nawaz, Rita Loureiro, Elizabeth C. Davenport, Paul Baxter, Susana R. Louros, Owen Dando, Emma Perkins, Julien Peltier, Matthias Trost, Emily K. Osterweil, Giles E. Hardingham, Michael A. Cousin, Sumantra Chattarji, Sam A. Booker, Tim A. Benke, David J. A Wyllie, Peter C. Kind
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract Background Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause a severe neurological disorder characterised by early-onset epileptic seizures, autism and intellectual disability (ID). Impaired hippocampal function has
Externí odkaz:
https://doaj.org/article/ae255dae432e41748c4459655b5be30f
Autor:
Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 906-917 (2024)
Abstract Objective Mutations in the cyclin‐dependent kinase‐like 5 gene (CDKL5) are associated with a wide spectrum of clinical presentations. Early‐onset epileptic encephalopathy (EOEE) is the most recognized phenotype. Here we describe phenot
Externí odkaz:
https://doaj.org/article/c640a6965bed4f77a3a6d07f66909886
Autor:
C. Quadalti, M. Sannia, N.E. Humphreys, V.A. Baldassarro, A. Gurgone, M. Ascolani, L. Zanella, L. Giardino, C.T. Gross, S. Croci, I. Meloni, M. Giustetto, A. Renieri, L. Lorenzini, L. Calzà
Publikováno v:
Heliyon, Vol 10, Iss 21, Pp e40165- (2024)
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental syndrome caused by mutations in the X-linked CDKL5 gene. Hundreds of pathogenic variants have been described, associated with a significant phenotypic heterogeneity observed among patients.
Externí odkaz:
https://doaj.org/article/56ddabb048be41ef958959507b9fd035
Autor:
Giorgia Pepe, Roberto Coco, Domenico Corica, Giovanni Luppino, Letteria Anna Morabito, Cecilia Lugarà, Tiziana Abbate, Giuseppina Zirilli, Tommaso Aversa, Stefano Stagi, Malgorzata Wasniewska
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
BackgroundRett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that involves mainly girls and is the second most frequent cause of genetic intellectual disability. RTT leads to neurological regression between 6 and 18 months of
Externí odkaz:
https://doaj.org/article/cf1e598adf0743ddaac5389c238e7144
Autor:
Elisa Borghi, Ornella Xynomilakis, Emerenziana Ottaviano, Camilla Ceccarani, Ilaria Viganò, Paola Tognini, Aglaia Vignoli
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by global developmental delay, early-onset seizures, intellectual disability, visual and motor impairments. Unlike Rett Syndrome (RTT), CDD lacks a clear regress
Externí odkaz:
https://doaj.org/article/5076cb12f9cd4b8c93cb0121aa6fc6ae
Autor:
Claudia Fuchs, Peter A. C. ‘t Hoen, Annelieke R. Müller, Friederike Ehrhart, Clara D. M. Van Karnebeek
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Rett syndrome (RTT) and Rett-like syndromes [i.e., CDKL5 deficiency disorder (CDD) and FOXG1-syndrome] represent rare yet profoundly impactful neurodevelopmental disorders (NDDs). The severity and complexity of symptoms associated with these disorder
Externí odkaz:
https://doaj.org/article/e3e1bc73abcc4c9ebc099277824730f6
Publikováno v:
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 60, Iss 1, Pp 1-5 (2024)
Abstract Background CDKL5 (Cyclin‐Dependent Kinase Like-5) deficiency disorder (CDD; Online Mendelian Inheritance in Man database 300203, 300672) is a rare neurologic disorder, which is caused by mutation in CDKL5 gene, situated on the X chromosome
Externí odkaz:
https://doaj.org/article/493b14136f504e05960849dcb849f712
Autor:
Jeffrey L. Neul, Timothy A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy, for the Rett syndrome Natural History Study Group
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Objective Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success
Externí odkaz:
https://doaj.org/article/46dabe3f9d4f4458ad61f971214298e1
Autor:
Valeria Ruggiero, Claudio Fagioli, Stefano de Pretis, Valerio Di Carlo, Nicoletta Landsberger, Daniele Zacchetti
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
CDKL5 is a kinase with relevant functions in correct neuronal development and in the shaping of synapses. A decrease in its expression or activity leads to a severe neurodevelopmental condition known as CDKL5 deficiency disorder (CDD). CDD arises fro
Externí odkaz:
https://doaj.org/article/3561e301f749442799dc30d47326ef82
Autor:
Alina Ivaniuk, Christian M. Boßelmann, Xiaoming Zhang, Mark St. John, Sara C. Taylor, Gokul Krishnaswamy, Alex Milinovich, Peter F. Aziz, Elia Pestana-Knight, Dennis Lal
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100842- (2024)
Purpose: CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was shown in animal models but is yet poorly described in CDD cohorts. Methods: We identified
Externí odkaz:
https://doaj.org/article/974e6717b8404f0fb9866109a8c3d285