CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

Analysis of the Phenotypes in the Rett Networked Database

(2019) Elisa Frullanti et al.   International Journal of Genomics

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

(2019) Heather E. Olson et al.   PEDIATRIC NEUROLOGY

Phenotypic manifestations between male and female children with CDKL5 mutations

(2019) Jao-Shwann Liang et al.   BRAIN & DEVELOPMENT

Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder

(2019) Sheng Tang et al.   Nature Communications

Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy

(2019) Dario Balestra et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pharmacotherapy with sertraline rescues brain development and behavior in a mouse model of CDKL5 deficiency disorder

(2019) Claudia Fuchs et al.   NEUROPHARMACOLOGY

Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 Deficiency Disorder

(2019) I. Barbiero et al.   NEUROPHARMACOLOGY

Open-label use of Highly* purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes

(2018) Orrin Devinsky et al.   EPILEPSY & BEHAVIOR

Treatment with the GSK3-beta inhibitor Tideglusib improves hippocampal development and memory performance in juvenile, but not adult, Cdkl5 knockout mice

(2018) Claudia Fuchs et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder

(2018) Stefania Trazzi et al.   HUMAN MOLECULAR GENETICS

The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5

(2018) Marco Tramarin et al.   HUMAN MOLECULAR GENETICS

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

(2018) Ara Ko et al.   Frontiers in Neurology

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

(2018) Zhan Lim et al.   EPILEPSY RESEARCH

Rescue of prepulse inhibition deficit and brain mitochondrial dysfunction by pharmacological stimulation of the central serotonin receptor 7 in a mouse model of CDKL5 Deficiency Disorder

(2018) Daniele Vigli et al.   NEUROPHARMACOLOGY

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients

(2017) Zhan Lim et al.   EPILEPSIA

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

(2017) Mary Beth Stosser et al.   GENETICS IN MEDICINE

The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex

(2017) Isabella Barbiero et al.   HUMAN MOLECULAR GENETICS

RettBASE: Rett syndrome database update

(2017) Rahul Krishnaraj et al.   HUMAN MUTATION

Functional abilities in children and adults with the CDKL5 disorder

(2016) Stephanie Fehr et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1

(2016) Grazia Della Sala et al.   BIOLOGICAL PSYCHIATRY

Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

(2016) A. Müller et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

(2016) Stephanie Fehr et al.   NEUROLOGY

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature

(2016) Inga Talvik et al.   NEUROPEDIATRICS

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

(2016) Meghana Mangatt et al.   Orphanet Journal of Rare Diseases

CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report

(2015) Virginia Chun-Nei Wong et al.   BRAIN & DEVELOPMENT

Two Siblings With a CDKL5 Mutation

(2015) Eveline E. O. Hagebeuk et al.   JOURNAL OF CHILD NEUROLOGY

There is variability in the attainment of developmental milestones in the CDKL5 disorder

(2015) Stephanie Fehr et al.   Journal of Neurodevelopmental Disorders

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients

(2014) Ying Zhao et al.   BMC Medical Genetics

Optimizing the molecular diagnosis ofCDKL5gene-related epileptic encephalopathy in boys

(2014) Davide Mei et al.   EPILEPSIA

Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling

(2014) Claudia Fuchs et al.   NEUROBIOLOGY OF DISEASE

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

(2013) Ghayda M. Mirzaa et al.   PEDIATRIC NEUROLOGY

Recurrent mutations in theCDKL5gene: Genotype-phenotype relationships

(2012) Nadia Bahi-Buisson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5

(2011) Hirotomo Saitsu et al.   BRAIN & DEVELOPMENT

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life

(2011) FEDERICO MELANI et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

(2011) Magdalena Bartnik et al.   GENETICS IN MEDICINE

Clinical Phenotype of 5 Females With a CDKL5 Mutation

(2011) Xenia L. Stalpers et al.   JOURNAL OF CHILD NEUROLOGY

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

(2011) K. M. Klein et al.   NEUROLOGY

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males

(2010) Julien Masliah-Plachon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novelCDKL5mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome

(2009) Stefano Sartori et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

(2009) R. Artuso et al.   BRAIN & DEVELOPMENT

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

(2009) Davide Mei et al.   EPILEPSIA

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

(2009) S. Russo et al.   NEUROGENETICS

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail

(2008) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY