CDKL5 Deficiency Disorder — Research Summary
Printed from RareWays (rareways.com.au) on 11 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Associations between EEG measures and clinical severity in CDKL5 deficiency disorder.
Saby Joni N et al. — Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology (1 November 2026)
https://pubmed.ncbi.nlm.nih.gov/42632229/
- 2.
Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications.
Wang Siyi et al. — Annals of clinical and translational neurology (26 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42644218/
- 3.
Postnatal sensory experience and barrel cortex alterations anticipate autistic traits in a mouse model of CDKL5 deficiency disorder.
Raspanti Alessandra et al. — Progress in neurobiology (19 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42617938/
- 4.
Dynamics of CDKL5 phosphorylation and its regulatory mechanisms in cultured cells.
Katayama Syouichi et al. — Journal of biochemistry (3 August 2026)
https://pubmed.ncbi.nlm.nih.gov/41967861/
- 5.
Clinical electrophysiological characteristics of cyclin-dependent kinase-like 5 gene induced developmental and epileptic encephalopathy (CDKL5-DEE).
Jia Chenlu et al. — Epileptic disorders : international epilepsy journal with videotape (7 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42412596/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
International CDKL5 Clinical Research Network
Recruiting — University of Colorado, Denver
https://clinicaltrials.gov/study/NCT05558371
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is a rare genetic condition caused by changes in the CDKL5 gene. It usually begins with seizures in the first months of life and leads to significant delays in movement, communication and learning, often with vision and feeding difficulties. Care involves seizure medicines, therapies such as physiotherapy and speech therapy, and support for families.
Most Recent Research
OBJECTIVE: Prior work has shown that quantitative EEG and evoked potentials (EPs) may be useful as objective measures of brain function for CDKL5 deficiency disorder (CDD), a developmental and epileptic encephalopathy associated with pathogenic variants in CDKL5. The current study builds on this work by examining associations between EEG/EP parameters and CDD-specific symptom severity in a large, representative cohort of individuals with CDD. METHODS: Resting EEG and visual and auditory EPs were acquired from 77 participants with CDD in a multi-site study designed to enhance clinical trial readiness for CDD. The statistical analysis evaluated associations between the EEG/EP parameters and validated CDD-specific measures of clinical severity. RESULTS: Resting EEG 1/f slope and power ratios were significantly associated with the clinical measures such that greater EEG background slowing correlated with greater symptom severity. In contrast, neither visual nor auditory EP measures were significantly associated with clinical severity in this cohort. CONCLUSIONS: The results underscore the potential utility of resting EEG parameters to serve as objective measures of clinical severity and brain function for CDD. SIGNIFICANCE: Future studies should continue to refine resting EEG as a biomarker to facilitate therapeutic development for CDD, as well as test new methods for the acquisition and analysis of EPs in this population.
Common Questions
What is CDKL5 Deficiency Disorder?
CDKL5 deficiency disorder is a rare genetic condition caused by changes in the CDKL5 gene. It usually begins with seizures in the first months of life and leads to significant delays in movement, communication and learning, often with vision and feeding difficulties. Care involves seizure medicines, therapies such as physiotherapy and speech therapy, and support for families.
How many clinical trials are available for CDKL5 Deficiency Disorder?
RareWays currently indexes 11 clinical trials for CDKL5 Deficiency Disorder, of which 1 is actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for CDKL5 Deficiency Disorder come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.