Research & Literature

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

Fehr S, Wong K, Chin R, et al.

Neurology 2016; (87(21)):2206-2213 doi:10.1212/WNL.0000000000003352.

CDKL5 deficiency entails sleep apneas in mice.

Lo Martire V, Alvente S, Bastianini S, et al.

Journal of sleep research 2017; (26(4)):495-497 doi:10.1111/jsr.12512.

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

Lim Z, Wong K, Olson HE, et al.

Epilepsia 2017; (58(8)):1415-1422 doi:10.1111/epi.13813.

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Neupauerová J, Štěrbová K, Vlčková M, et al.

Genetic testing and molecular biomarkers 2017; (21(10)):613-618 doi:10.1089/gtmb.2017.0110.

Pneumonitis and pneumonia after aspiration.

Son YG, Shin J, Ryu HG

Journal of dental anesthesia and pain medicine 2017; (17(1)):1-12 doi:10.17245/jdapm.2017.17.1.1.

Rescue Medications in Epilepsy Patients: A Family Perspective.

Gaínza-Lein M, Benjamin R, Stredny C, et al.

Seizure 2017; (52()):188-194 doi:10.1016/j.seizure.2017.10.007.

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Hector RD, Kalscheuer VM, Hennig F, et al.

Neurology. Genetics 2017; (3(6)):e200 doi:10.1212/NXG.0000000000000200.

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

Lim Z, Wong K, Downs J, et al.

Epilepsy research 2018; (146()):36-40 doi:10.1016/j.eplepsyres.2018.07.013.

Pathophysiology of convulsive status epilepticus.

Sánchez Fernández I, Goodkin HP, Scott RC

Seizure 2019; (68()):16-21 doi:10.1016/j.seizure.2018.08.002.

Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics.

Baltussen LL, Negraes PD, Silvestre M, et al.

The EMBO journal 2018; (37(24)) doi:10.15252/embj.201899763.

CDKL5 deficiency predisposes neurons to cell death through the deregulation of SMAD3 signaling.

Fuchs C, Medici G, Trazzi S, et al.

Brain pathology (Zurich, Switzerland) 2019; (29(5)):658-674 doi:10.1111/bpa.12716.

Acute respiratory distress syndrome.

Matthay MA, Zemans RL, Zimmerman GA, et al.

Nature reviews. Disease primers 2019; (5(1)):18 doi:10.1038/s41572-019-0069-0.

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

Olson HE, Demarest ST, Pestana-Knight EM, et al.

Pediatric neurology 2019; (97()):18-25 doi:10.1016/j.pediatrneurol.2019.02.015.

Nursing Home-Associated Pneumonia, Part I: Diagnosis.

Mylotte JM

Journal of the American Medical Directors Association 2020; (21(3)):308-314 doi:10.1016/j.jamda.2019.04.020.

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.

Bernardo P, Ferretti A, Terrone G, et al.

Epileptic disorders : international epilepsy journal with videotape 2019; (21(3)):271-277 doi:10.1684/epd.2019.1071.

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.

Demarest ST, Olson HE, Moss A, et al.

Epilepsia 2019; (60(8)):1733-1742 doi:10.1111/epi.16285.

Bioavailability and safety of diazepam intranasal solution compared to oral and rectal diazepam in healthy volunteers.

Hogan RE, Gidal BE, Koplowitz B, et al.

Epilepsia 2020; (61(3)):455-464 doi:10.1111/epi.16449.

Efficacy, Tolerability, and Safety of Concentrated Intranasal Midazolam Spray as Emergency Medication in Epilepsy Patients During Video-EEG Monitoring.

von Blomberg A, Kay L, Knake S, et al.

CNS drugs 2020; (34(5)):545-553 doi:10.1007/s40263-020-00720-w.

Perioperative aspiration events in children: A report from the Wake Up Safe Collaborative.

Pfaff KE, Tumin D, Miller R, et al.

Paediatric anaesthesia 2020; (30(6)):660-666 doi:10.1111/pan.13893.

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.

Cutri-French C, Armstrong D, Saby J, et al.

Annals of neurology 2020; (88(2)):396-406 doi:10.1002/ana.25797.

Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.

Katayama S, Sueyoshi N, Inazu T, Kameshita I

Neural plasticity 2020; (2020()):6970190 doi:10.1155/2020/6970190.

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.

MacKay CI, Wong K, Demarest ST, et al.

Clinical genetics 2021; (99(1)):157-165 doi:10.1111/cge.13862.

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder.

Leonard H, Junaid M, Wong K, et al.

Epilepsy research 2021; (169()):106521 doi:10.1016/j.eplepsyres.2020.106521.

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.

Kobayashi Y, Tohyama J, Takahashi Y, et al.

Brain & development 2021; (43(4)):505-514 doi:10.1016/j.braindev.2020.12.006.

A GABAB receptor antagonist rescues functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder.

Gennaccaro L, Fuchs C, Loi M, et al.

Neurobiology of disease 2021; (153()):105304 doi:10.1016/j.nbd.2021.105304.

CDKL5 deficiency disorder in males: Five new variants and review of the literature.

Siri B, Varesio C, Freri E, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (33()):9-20 doi:10.1016/j.ejpn.2021.04.007.

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.

Olson HE, Costantini JG, Swanson LC, et al.

Developmental medicine and child neurology 2021; (63(11)):1308-1315 doi:10.1111/dmcn.14908.

Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement.

Brock D, Fidell A, Thomas J, et al.

Journal of child neurology 2021; (36(11)):974-980 doi:10.1177/08830738211019284.

Management of status epilepticus: a narrative review.

Migdady I, Rosenthal ES, Cock HR

Anaesthesia 2022; (77 Suppl 1()):78-91 doi:10.1111/anae.15606.

Cortical Visual Impairment in CDKL5 Deficiency Disorder.

Quintiliani M, Ricci D, Petrianni M, et al.

Frontiers in neurology 2021; (12()):805745 doi:10.3389/fneur.2021.805745.

The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child.

Demarest S, Marsh R, Treat L, et al.

Journal of child neurology 2022; (37(6)):451-460 doi:10.1177/08830738221076285.

Pre-hospital and emergency department treatment of convulsive status epilepticus in adults: an evidence synthesis.

Cruickshank M, Imamura M, Booth C, et al.

Health technology assessment (Winchester, England) 2022; (26(20)):1-76 doi:10.3310/RSVK2062.

Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.

Barbiero I, Zamberletti E, Tramarin M, et al.

Human molecular genetics 2022; (31(16)):2738-2750 doi:10.1093/hmg/ddac067.

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder.

Downs J, Jacoby P, Saldaris J, et al.

Journal of sleep research 2022; (31(5)):e13600 doi:10.1111/jsr.13600.

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).

Saldaris J, Leonard H, Jacoby P, et al.

Journal of child neurology 2022; (37(6)):541-547 doi:10.1177/08830738221091044.

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.

Knight EMP, Amin S, Bahi-Buisson N, et al.

The Lancet. Neurology 2022; (21(5)):417-427 doi:10.1016/S1474-4422(22)00077-1.

CDKL5 deficiency disorder: clinical features, diagnosis, and management.

Leonard H, Downs J, Benke TA, et al.

The Lancet. Neurology 2022; (21(6)):563-576 doi:10.1016/S1474-4422(22)00035-7.

CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.

Hong W, Haviland I, Pestana-Knight E, et al.

CNS drugs 2022; (36(6)):591-604 doi:10.1007/s40263-022-00921-5.

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

Amin S, Monaghan M, Aledo-Serrano A, et al.

Frontiers in neurology 2022; (13()):874695 doi:10.3389/fneur.2022.874695.

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

Keehan L, Haviland I, Gofin Y, et al.

American journal of medical genetics. Part A 2022; (188(12)):3516-3524 doi:10.1002/ajmg.a.62940.

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder.

Wong K, Junaid M, Demarest S, et al.

European journal of human genetics : EJHG 2023; (31(2)):169-178 doi:10.1038/s41431-022-01163-1.

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.

Van Bergen NJ, Massey S, Quigley A, et al.

Biochemical Society transactions 2022; (50(4)):1207-1224 doi:10.1042/BST20220791.

Introduction to use of an acute seizure action plan for seizure clusters and guidance for implementation.

Patel AD, Becker DA

Epilepsia 2022; (63 Suppl 1()):S25-S33 doi:10.1111/epi.17344.

Efficacy of ketogenic diet in CDKL5-related epilepsy: a single arm meta-analysis.

Zhang J, Ma J, Chang X, et al.

Orphanet journal of rare diseases 2022; (17(1)):385 doi:10.1186/s13023-022-02492-6.

CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.

Takahashi S, Takeguchi R, Tanaka R, et al.

Journal of the neurological sciences 2022; (443()):120498 doi:10.1016/j.jns.2022.120498.

Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether.

De Rosa R, Valastro S, Cambria C, et al.

International journal of molecular sciences 2022; (24(1)) doi:10.3390/ijms24010068.

CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.

Darra F, Monchelato M, Loos M, et al.

Epilepsy research 2023; (190()):107098 doi:10.1016/j.eplepsyres.2023.107098.

Epilepsy-Related CDKL5 Deficiency Slows Synaptic Vesicle Endocytosis in Central Nerve Terminals.

Kontaxi C, Ivanova D, Davenport EC, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2023; (43(11)):2002-2020 doi:10.1523/JNEUROSCI.1537-22.2023.

Long time polysomnographic sleep and breathing evaluations in children with CDKL5 deficiency disorder.

Hagebeuk EEO, Smits A, de Weerd A

Sleep medicine 2023; (103()):173-179 doi:10.1016/j.sleep.2023.02.003.

Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.

Olson HE, Demarest S, Pestana-Knight E, et al.

Epilepsia 2023; (64(7)):1821-1832 doi:10.1111/epi.17630.

Nonconvulsive Status Epilepticus: A Review for Emergency Clinicians.

Long B, Koyfman A

The Journal of emergency medicine 2023; (65(4)):e259-e271 doi:10.1016/j.jemermed.2023.05.012.

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.

Ziniel SI, Mackie A, Saldaris J, et al.

Epilepsy research 2023; (197()):107231 doi:10.1016/j.eplepsyres.2023.107231.

CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.

Daniels C, Greene C, Smith L, et al.

Developmental medicine and child neurology 2024; (66(4)):456-468 doi:10.1111/dmcn.15747.

Growth patterns in individuals with CDKL5 deficiency disorder.

Wong K, Davies G, Leonard H, et al.

Developmental medicine and child neurology 2024; (66(4)):469-482 doi:10.1111/dmcn.15777.

Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.

Olson HE, Amin S, Bahi-Buisson N, et al.

Epilepsia 2024; (65(1)):37-45 doi:10.1111/epi.17826.

Rett and Rett-related disorders: Common mechanisms for shared symptoms?

D'Mello SR

Experimental biology and medicine (Maywood, N.J.) 2023; (248(22)):2095-2108 doi:10.1177/15353702231209419.

Benzodiazepines for the Treatment of Seizure Clusters.

Penovich PE, Rao VR, Long L, et al.

CNS drugs 2024; (38(2)):125-140 doi:10.1007/s40263-023-01060-1.

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.

Keeley J, Benson-Goldberg S, Saldaris J, et al.

American journal of medical genetics. Part A 2024; (194(7)):e63570 doi:10.1002/ajmg.a.63570.

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.

Amin S, Møller RS, Aledo-Serrano A, et al.

Epilepsia open 2024; (9(3)):832-849 doi:10.1002/epi4.12914.

CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.

Dell'Isola GB, Fattorusso A, Pisani F, et al.

Journal of neurology 2024; (271(8)):5368-5377 doi:10.1007/s00415-024-12421-1.

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial.

Downs J, Jacoby P, Specchio N, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (51()):140-146 doi:10.1016/j.ejpn.2024.06.005.

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database.

Wong K, Junaid M, Alexander S, et al.

CNS drugs 2024; (38(9)):719-732 doi:10.1007/s40263-024-01105-z.

Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder.

Saldaris JM, Jacoby P, Downs J, et al.

Epilepsia 2024; (65(10)):3064-3075 doi:10.1111/epi.18094.

The small steps that lead to big impact: translating therapeutics from idea to reality for the CDKL5 deficiency disorder community.

Jaksha A, Bishop M, Utley K, Grabenstatter HL

Therapeutic advances in rare disease 2024; (5()):26330040241275673 doi:10.1177/26330040241275673.

Is There a Role for Bronchoscopy in Aspiration Pneumonia?

Darie AM, Stolz D

Seminars in respiratory and critical care medicine 2024; (45(6)):650-658 doi:10.1055/s-0044-1791739.

Immediate Treatment of Seizure Clusters: A Conceptual Roadmap to Expedited Seizure Management.

Wheless JW, Becker DA, Benbadis SR, et al.

Neuropsychiatric disease and treatment 2024; (20()):2255-2265 doi:10.2147/NDT.S481758.

Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons.

Glass MR, Whye D, Anderson NC, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.11.11.622878.

Japanese guidelines for treatment of pediatric status epilepticus - 2023.

Kikuchi K, Kuki I, Nishiyama M, et al.

Brain & development 2025; (47(1)):104306 doi:10.1016/j.braindev.2024.104306.

Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder.

Junaid M, Wong K, Korolainen MA, et al.

Pediatric neurology 2025; (163()):68-75 doi:10.1016/j.pediatrneurol.2024.11.010.

Ganaxolone: A Review in Epileptic Seizures Associated with Cyclin-Dependent Kinase-Like 5 Deficiency Disorder.

Hoy SM

Paediatric drugs 2025; (27(1)):111-118 doi:10.1007/s40272-024-00670-6.

The natural history of CDKL5 deficiency disorder into adulthood.

Aledo-Serrano A, Lewis-Smith D, Leonard H, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.01.12.24318239.

Exploring neurodevelopment in CDKL5 deficiency disorder: Current insights and future directions.

Dell'Isola GB, Perinelli MG, Frulli A, et al.

Epilepsy & behavior : E&B 2025; (171()):110504 doi:10.1016/j.yebeh.2025.110504.

Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey.

Amin S, Partridge CA, Leonard H, et al.

JMIR formative research 2025; (9()):e72489 doi:10.2196/72489.

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

Carapancea E, Eizadkhah D, Santalucia R, et al.

Epileptic disorders : international epilepsy journal with videotape 2025; (27(5)):1011-1020 doi:10.1002/epd2.70058.

Pharmacokinetics and 180-day safety of diazepam nasal spray in pediatric patients with epilepsy aged 2-5 years.

Segal EB, Wheless JW, Zafar M, et al.

Epilepsia 2025; (66(9)):3231-3241 doi:10.1111/epi.18473.

CDKL5 regulates the initiation of retrograde axonal transport through CLIP170-dynactin complex formation.

Baldin S, Carmone C, Valetti G, et al.

The FEBS journal 2026; (293(2)):456-474 doi:10.1111/febs.70230.

Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder.

Jacoby P, Marsh ED, Demarest S, et al.

Brain and behavior 2025; (15(11)):e71061 doi:10.1002/brb3.71061.

Evidence for acid-sensing ion channel 3 (ASIC3) involvement in cough resulting from aspiration of gastric fluid.

Chou YL, Mori N, Pavelkova N, et al.

The Journal of physiology 2026; (604(3)):1447-1462 doi:10.1113/JP289922.

Exploring sleep challenges in CDKL5 Deficiency Disorder.

Leonard H, Szepe E, Junaid M, et al.

Journal of neurodevelopmental disorders 2026; (18(1)).

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study.

Liogier d'Ardhuy X, , Cimms T, et al.

Epilepsia 2026; (67(4)):1703-1721 doi:10.1002/epi.70095.

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe.

Vigevano F, Arzimanoglou A, Auvin S, et al.

BMC pediatrics 2026; (26(1)):135.

CDKL5 modulates the plasticity of excitatory synapses via liquid-liquid phase separation.

Li M, Zhu Z, Li D, et al.

Proceedings of the National Academy of Sciences of the United States of America 2026; (123(8)):e2511123123 doi:10.1073/pnas.2511123123.

Short-term corticosteroid therapy in aspiration pneumonitis complicated by acute respiratory distress syndrome: A case report.

Le-Hoang A, Nguyen-Dang K, Tran-Dinh H, et al.

Medicine 2026; (105(8)):e47816 doi:10.1097/MD.0000000000047816.

The CDKL5 kinase undergoes liquid-liquid phase separation driven by a serine-rich C-terminal region.

Boggio Bozzo S, Dell'Oca M, Vaglietti S, et al.

Life science alliance 2026; (9(5)) doi:10.26508/lsa.202503402.

Clinical and Evolutionary Aspects of CDKL5-Related Developmental Epileptic Encephalopathy: A Case Report.

Setouani S, Khabbach K, Lamzouri A, et al.

Cureus 2026; (18(5)):e108475 doi:10.7759/cureus.108475.

Safety and Local Tolerability of Diazepam Nasal Spray for Children With Epilepsy Aged 2-5 Years: Final Results of a Phase 1/2a Trial.

Segal EB, Wheless JW, Wolf SM, et al.

Journal of child neurology 2026; 8830738261474614 doi:10.1177/08830738261474614.