Cdkl5 | List of Frontiers open access articles

Original Research

Published on 30 Oct 2023

Complex CDKL5 translational regulation and its potential role in CDKL5 deficiency disorder

in Cellular Neurophysiology

Valeria Ruggiero
Claudio Fagioli
Stefano de Pretis
Valerio Di Carlo
Nicoletta Landsberger
Daniele Zacchetti

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2023.1231493

4,094 views
2 citations

Original Research

Published on 28 Nov 2016

Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex

in Cellular Neurophysiology

Riccardo Pizzo
Antonia Gurgone
Enrico Castroflorio
Elena Amendola
Cornelius Gross
Marco Sassoè-Pognetto
Maurizio Giustetto

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2016.00261

12,176 views
79 citations

Original Research

Published on 30 Apr 2019

Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist

in Cellular Neuropathology

Elisa Ren
Vincenzo Roncacé
Stefania Trazzi
Claudia Fuchs
Giorgio Medici
Laura Gennaccaro
Manuela Loi
Giuseppe Galvani
Keqiang Ye
Roberto Rimondini

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2019.00169

8,702 views
46 citations

Original Research

Published on 17 Mar 2022

Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology

in Pediatric Neurology

Jun Wang
Jie Zhang
Ying Yang
Kai Gao
Ye Wu
Yuehua Zhang
Yuwu Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2022.842666

5,525 views
17 citations

Original Research

Published on 21 Jan 2026

A cross-correction gene therapy approach for CDKL5 deficiency disorder improves the pathological phenotype of CDD patient-derived cortical organoids

in Organoids and Organ-On-A-Chip

Giorgio Medici
Angelica M. Bove
Stefania Trazzi
Francesca Puppo
Manuela Loi
Nicola Mottolese
Giulia Candini
Federica Trebbi
Sandra Sanchez
Alysson R. Muotri

Frontiers in Bioengineering and Biotechnology

doi 10.3389/fbioe.2025.1744903

1,988 views

Original Research

Published on 30 Apr 2025

A phylogenetic analysis of the CDKL protein family unravels its evolutionary history and supports the Drosophila model of CDKL5 deficiency disorder

in Molecular and Cellular Pathology

María del Carmen Martín-Carrascosa
Christian Palacios-Martínez
Máximo Ibo Galindo

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2025.1582684

4,096 views
2 citations

Original Research

Published on 20 May 2026

CDKL5 deficiency results in atypical subregion-specific expression of perineuronal nets during mouse visual critical period

in Developmental and Regenerative Neuroscience

Brett Addison Emery
Matthew Everett
Logan Reid Dunn
Billy You Bun Lau
Keerthi Krishnan

Frontiers in Neuroscience

doi 10.3389/fnins.2026.1769195

2,149 views

Original Research

Published on 20 Jun 2022

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

in Pediatric Neurology

Sam Amin
Marie Monaghan
Angel Aledo-Serrano
Nadia Bahi-Buisson
Richard F. Chin
Angus J. Clarke
J. Helen Cross
Scott Demarest
Orrin Devinsky
Jenny Downs

Frontiers in Neurology

doi 10.3389/fneur.2022.874695

17,961 views
35 citations

Brief Research Report

Published on 26 Jan 2022

Cortical Visual Impairment in CDKL5 Deficiency Disorder

in Pediatric Neurology

Michela Quintiliani
Daniela Ricci
Maria Petrianni
Simona Leone
Lorenzo Orazi
Filippo Amore
Maria Luigia Gambardella
Ilaria Contaldo
Chiara Veredice
Marco Perulli

Frontiers in Neurology

doi 10.3389/fneur.2021.805745

5,515 views
24 citations

Review

Published on 28 May 2020

Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research

Joni N. Saby
Sarika U. Peters
Timothy P. L. Roberts
Charles A. Nelson
Eric D. Marsh

Frontiers in Integrative Neuroscience

doi 10.3389/fnint.2020.00030

16,236 views
41 citations

Methods

Published on 09 Jun 2025

Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders

Joni N. Saby
Eric D. Marsh

Frontiers in Integrative Neuroscience

doi 10.3389/fnint.2025.1574758

5,701 views
2 citations

Perspective

Published on 29 Jul 2024

Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?

in Regulatory Science

Claudia Fuchs
Peter A. C. ‘t Hoen
Annelieke R. Müller
Friederike Ehrhart
Clara D. M. Van Karnebeek

Frontiers in Medicine

doi 10.3389/fmed.2024.1425038

5,695 views
2 citations

Original Research

Published on 14 Feb 2017

Proteomic Analysis of Post-synaptic Density Fractions from Shank3 Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder

in Neuroplasticity and Development

Dominik Reim
Ute Distler
Sonja Halbedl
Chiara Verpelli
Carlo Sala
Juergen Bockmann
Stefan Tenzer
Tobias M. Boeckers
Michael J. Schmeisser

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2017.00026

14,979 views
73 citations

Original Research

Published on 16 Jul 2018

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy

in Epilepsy

Ara Ko
Da E. Jung
Se H. Kim
Hoon-Chul Kang
Joon S. Lee
Seung T. Lee
Jong R. Choi
Heung D. Kim

Frontiers in Neurology

doi 10.3389/fneur.2018.00530

15,851 views
80 citations

Review

Published on 01 Mar 2022

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review

in Pediatric Neurology

Giorgia Tascini
Giovanni Battista Dell'Isola
Elisabetta Mencaroni
Giuseppe Di Cara
Pasquale Striano
Alberto Verrotti

Frontiers in Neurology

doi 10.3389/fneur.2022.817195

14,526 views
40 citations

Brief Research Report

Published on 18 Nov 2025

Gut microbiota signatures in tuberous sclerosis complex and epilepsy: a pilot study

in Gut-Brain Axis

Emerenziana Ottaviano
Matteo Domenico Marsiglia
Camilla Ceccarani
Silvia Ancona
Francesca Triva
Francesca La Briola
Stefania Bergamoni
Federica Teutonico
Alice Pompili
Ilaria Viganò

Frontiers in Neuroscience

doi 10.3389/fnins.2025.1655456

2,533 views

Articles

Complex CDKL5 translational regulation and its potential role in CDKL5 deficiency disorder

Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex

Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist

Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology

A cross-correction gene therapy approach for CDKL5 deficiency disorder improves the pathological phenotype of CDD patient-derived cortical organoids

A phylogenetic analysis of the CDKL protein family unravels its evolutionary history and supports the Drosophila model of CDKL5 deficiency disorder

CDKL5 deficiency results in atypical subregion-specific expression of perineuronal nets during mouse visual critical period

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

Cortical Visual Impairment in CDKL5 Deficiency Disorder

Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research

Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders

Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?

Proteomic Analysis of Post-synaptic Density Fractions from Shank3 Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review

Gut microbiota signatures in tuberous sclerosis complex and epilepsy: a pilot study