Cargando…

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic

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 phenot...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kadam, Shilpa D., Sullivan, Brennan J., Goyal, Archita, Blue, Mary E., Smith-Hicks, Constance
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834180/ https://www.ncbi.nlm.nih.gov/pubmed/31618813 http://dx.doi.org/10.3390/ijms20205098

Ejemplares similares

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
por: Mangatt, Meghana, et al.
Publicado: (2016)

Complex CDKL5 translational regulation and its potential role in CDKL5 deficiency disorder
por: Ruggiero, Valeria, et al.
Publicado: (2023)

Cortical Visual Impairment in CDKL5 Deficiency Disorder
por: Quintiliani, Michela, et al.
Publicado: (2022)

Novel preclinical model for CDKL5 deficiency disorder
por: Serrano, Rita J., et al.
Publicado: (2022)

Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human CDKL5 deficiency disorder
por: Varela, Tatiana, et al.
Publicado: (2022)

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
por: Specchio, Nicola, et al.
Publicado: (2023)

Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder
por: Katayama, Syouichi, et al.
Publicado: (2020)

CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy
por: Jakimiec, Martyna, et al.
Publicado: (2020)

Effect of fenfluramine on convulsive seizures in CDKL5 deficiency disorder
por: Devinsky, Orrin, et al.
Publicado: (2021)

Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder
por: Saby, Joni N, et al.
Publicado: (2022)

CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male
por: Rodak, Małgorzata, et al.
Publicado: (2022)

Ganaxolone: A New Treatment for CDKL5 Deficiency Disorder
por: Vossler, David G.
Publicado: (2022)

Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder
por: Di Nardo, Alessia, et al.
Publicado: (2022)

Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder
por: Medici, Giorgio, et al.
Publicado: (2022)

In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment
por: Fahmi, Muhamad, et al.
Publicado: (2019)

Reigning in Excitatory Signaling in CDKL5 Deficiency
por: Forcelli, Patrick A.
Publicado: (2019)

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
por: Olson, Heather E., et al.
Publicado: (2021)

Rett syndrome from bench to bedside: recent advances
por: Ehinger, Yann, et al.
Publicado: (2018)

Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder
por: Fuchs, Claudia, et al.
Publicado: (2018)

Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
por: Mazziotti, Raffaele, et al.
Publicado: (2017)

Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs
por: Leoncini, Silvia, et al.
Publicado: (2015)

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
por: Amin, Sam, et al.
Publicado: (2022)

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder
por: Wong, Kingsley, et al.
Publicado: (2022)

Ataluren for drug‐resistant epilepsy in nonsense variant‐mediated Dravet syndrome and CDKL5 deficiency disorder
por: Devinsky, Orrin, et al.
Publicado: (2021)

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
por: Maortua, Hiart, et al.
Publicado: (2012)

Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?
por: Barbiero, Isabella, et al.
Publicado: (2019)

Correction to: Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder
por: Wong, Kingsley, et al.
Publicado: (2022)

Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder
por: Loi, Manuela, et al.
Publicado: (2023)

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
por: Yan, Yumei, et al.
Publicado: (2020)

FRI600 Growth Attenuation Treatment In A Child With Cdkl5 Deficiency: The First Case In Our Institution
por: Cooper, Felicia Ilyssa, et al.
Publicado: (2023)

There is variability in the attainment of developmental milestones in the CDKL5 disorder
por: Fehr, Stephanie, et al.
Publicado: (2015)

Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder
por: Lupori, Leonardo, et al.
Publicado: (2019)

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development
por: Van Bergen, Nicole J., et al.
Publicado: (2022)

Recent advances in understanding synaptic abnormalities in Rett syndrome
por: Johnston, Michael, et al.
Publicado: (2015)

Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder
por: Tang, Sheng, et al.
Publicado: (2019)

Inhibition of microglia overactivation restores neuronal survival in a mouse model of CDKL5 deficiency disorder
por: Galvani, Giuseppe, et al.
Publicado: (2021)

Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder
por: Mottolese, Nicola, et al.
Publicado: (2023)

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
por: Tascini, Giorgia, et al.
Publicado: (2022)

Luteolin Treatment Ameliorates Brain Development and Behavioral Performance in a Mouse Model of CDKL5 Deficiency Disorder
por: Tassinari, Marianna, et al.
Publicado: (2022)

Therapeutic potential of pregnenolone and pregnenolone methyl ether on depressive and CDKL5 deficiency disorders: Focus on microtubule targeting
por: Barbiero, Isabella, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_m3gql5p26coanutam8koejknu9