CDKL5 Deficiency Disorder Latest Advances

Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR).

Journal: Journal of child neurology

Published: September 03, 2025

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.

Journal: International journal of molecular sciences

Published: August 15, 2025

An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons.

Journal: bioRxiv : the preprint server for biology

Published: August 08, 2025

Ganaxolone in Epilepsy: Insights into a Neurosteroid-Based Therapy.

Journal: Epilepsy research

Published: June 30, 2025

Adult-Onset Deletion of CDKL5 in Forebrain Glutamatergic Neurons Impairs Synaptic Integrity and Behavior in Mice.

Journal: International journal of molecular sciences

Published: June 16, 2025

Safety and efficacy of Igk-TATk-CDKL5 gene therapy in mosaic CDKL5 deficiency.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: May 30, 2025

Transcriptomic Profiling of Zebrafish Mutant for cdkl5 Reveals Dysregulated Gene Expression Associated with Neuronal, Muscle, Visual and Skeletal Development.

Journal: International journal of molecular sciences

Published: May 06, 2025

Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.

Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation

Published: April 30, 2025

Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Journal: Epilepsia open

Published: March 12, 2025

Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: March 11, 2025

Activation of KCC2 during development alleviates cognitive, behavioral, and neural excitability in adult CDKL5-deficient mice.

Journal: bioRxiv : the preprint server for biology

Published: March 10, 2025

Precision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy.

Journal: Children (Basel, Switzerland)

Published: March 07, 2025

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Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR).

Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR).

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.

An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons.

An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons.

Ganaxolone in Epilepsy: Insights into a Neurosteroid-Based Therapy.

Ganaxolone in Epilepsy: Insights into a Neurosteroid-Based Therapy.

Adult-Onset Deletion of CDKL5 in Forebrain Glutamatergic Neurons Impairs Synaptic Integrity and Behavior in Mice.

Adult-Onset Deletion of CDKL5 in Forebrain Glutamatergic Neurons Impairs Synaptic Integrity and Behavior in Mice.

Safety and efficacy of Igk-TATk-CDKL5 gene therapy in mosaic CDKL5 deficiency.

Safety and efficacy of Igk-TATk-CDKL5 gene therapy in mosaic CDKL5 deficiency.

Transcriptomic Profiling of Zebrafish Mutant for cdkl5 Reveals Dysregulated Gene Expression Associated with Neuronal, Muscle, Visual and Skeletal Development.

Transcriptomic Profiling of Zebrafish Mutant for cdkl5 Reveals Dysregulated Gene Expression Associated with Neuronal, Muscle, Visual and Skeletal Development.

Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.

Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.

Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.

Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.

Activation of KCC2 during development alleviates cognitive, behavioral, and neural excitability in adult CDKL5-deficient mice.

Activation of KCC2 during development alleviates cognitive, behavioral, and neural excitability in adult CDKL5-deficient mice.

Precision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy.

Precision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy.