Current Overview of CDKL-5 Deficiency Disorder Treatment-Reference-Cited by-同舟云学术

Current Overview of CDKL-5 Deficiency Disorder Treatment

Published:2024-01-03 Issue:1 Volume:16 Page:21-25
ISSN:2036-7503
Container-title:Pediatric Reports
language:en
Short-container-title:Pediatric Reports

Author:

Dell’Isola Giovanni Battista¹,Portwood Katherin Elizabeth²,Consing Kirsten²^ORCID,Fattorusso Antonella¹,Bartocci Arnaldo³,Ferrara Pietro⁴,Di Cara Giuseppe¹,Verrotti Alberto¹,Lodolo Mauro²

Affiliation:

1. Department of Pediatrics, University of Perugia, 06129 Perugia, Italy

2. Shands Children’s Hospital, Department of Child Neurology, University of Florida, Gainesville, FL 32608, USA

3. Neurophysipathology Service, Villa Margherita, 01027 Montefiascone, Italy

4. Unit of Pediatrics, Campus Bio-Medico University, 00128 Rome, Italy

Abstract

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine–threonine kinase involved in neural maturation and synaptogenesis [...]

Publisher

MDPI AG

Link

https://www.mdpi.com/2036-7503/16/1/2/pdf

Reference29 articles.

1. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review;Olson;Pediatr. Neurol.,2019

2. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy;Fehr;Eur. J. Hum. Genet.,2013

3. Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review;Tascini;Front. Neurol.,2022

4. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder;Fehr;Neurology,2016

5. Functional abilities in children and adults with the CDKL5 disorder;Fehr;Am. J. Med. Genet. A,2016

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1. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy;Journal of Neurology;2024-06-14

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