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CDKL5 disorder

MedGen UID:
979148
•Concept ID:
CN296942
•
Disease or Syndrome
Synonyms: CDKL5; CDKL5 Deficiency Disorder; CDKL5 inherited genetic disease; CDKL5-related disorder; inherited genetic disease caused by mutation in CDKL5
 
Monarch Initiative: MONDO:0100039

Definition

A monogenic disease that has material basis in mutation in the CDKL5 gene. [from MONDO]

Professional guidelines

PubMed

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H
Clin Genet 2021 Jan;99(1):157-165. Epub 2020 Oct 20 doi: 10.1111/cge.13862. PMID: 33047306

Recent clinical studies

Etiology

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).
Saldaris J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest S, Downs J
J Child Neurol 2022 May;37(6):541-547. Epub 2022 Apr 14 doi: 10.1177/08830738221091044. PMID: 35422141Free PMC Article
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H
Clin Genet 2021 Jan;99(1):157-165. Epub 2020 Oct 20 doi: 10.1111/cge.13862. PMID: 33047306
Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.
Mori Y, Downs J, Wong K, Heyworth J, Leonard H
J Autism Dev Disord 2018 May;48(5):1651-1665. doi: 10.1007/s10803-017-3420-x. PMID: 29192378
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H
Neurology 2016 Nov 22;87(21):2206-2213. Epub 2016 Oct 21 doi: 10.1212/WNL.0000000000003352. PMID: 27770071
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
Mangatt M, Wong K, Anderson B, Epstein A, Hodgetts S, Leonard H, Downs J
Orphanet J Rare Dis 2016 Apr 14;11:39. doi: 10.1186/s13023-016-0418-y. PMID: 27080038Free PMC Article

Diagnosis

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).
Saldaris J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest S, Downs J
J Child Neurol 2022 May;37(6):541-547. Epub 2022 Apr 14 doi: 10.1177/08830738221091044. PMID: 35422141Free PMC Article
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H
Clin Genet 2021 Jan;99(1):157-165. Epub 2020 Oct 20 doi: 10.1111/cge.13862. PMID: 33047306
A new cause of developmental and epileptic encephalopathy with continuous spike-and-wave during sleep: CDKL5 disorder.
Arican P, Gencpinar P, Olgac Dundar N
Neurocase 2019 Feb-Apr;25(1-2):59-61. Epub 2019 May 3 doi: 10.1080/13554794.2019.1612923. PMID: 31046567
Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.
Muñoz IM, Morgan ME, Peltier J, Weiland F, Gregorczyk M, Brown FC, Macartney T, Toth R, Trost M, Rouse J
EMBO J 2018 Dec 14;37(24) Epub 2018 Sep 28 doi: 10.15252/embj.201899559. PMID: 30266825Free PMC Article
Functional abilities in children and adults with the CDKL5 disorder.
Fehr S, Downs J, Ho G, de Klerk N, Forbes D, Christodoulou J, Williams S, Leonard H
Am J Med Genet A 2016 Nov;170(11):2860-2869. Epub 2016 Aug 16 doi: 10.1002/ajmg.a.37851. PMID: 27528505

Therapy

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, Olson HE, Pestana-Knight EM, Rajaraman RR, Downs J, Leonard H
CNS Drugs 2024 Sep;38(9):719-732. Epub 2024 Jul 26 doi: 10.1007/s40263-024-01105-z. PMID: 39060900Free PMC Article
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A
J Neurodev Disord 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z. PMID: 34530725Free PMC Article
The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder.
Dale T, Downs J, Wong K, Leonard H
Epilepsy Behav 2021 Sep;122:108152. Epub 2021 Jun 18 doi: 10.1016/j.yebeh.2021.108152. PMID: 34148781
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H
Neurology 2016 Nov 22;87(21):2206-2213. Epub 2016 Oct 21 doi: 10.1212/WNL.0000000000003352. PMID: 27770071
HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder.
Trazzi S, Fuchs C, Viggiano R, De Franceschi M, Valli E, Jedynak P, Hansen FK, Perini G, Rimondini R, Kurz T, Bartesaghi R, Ciani E
Hum Mol Genet 2016 Sep 15;25(18):3887-3907. Epub 2016 Jul 27 doi: 10.1093/hmg/ddw231. PMID: 27466189

Prognosis

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
MacKay CI, Bick D, Prokop JW, Muñoz I, Rouse J, Downs J, Leonard H
Am J Med Genet A 2020 May;182(5):1217-1222. Epub 2020 Feb 8 doi: 10.1002/ajmg.a.61504. PMID: 32034940
Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.
Lim Z, Wong K, Olson HE, Bergin AM, Downs J, Leonard H
Epilepsia 2017 Aug;58(8):1415-1422. Epub 2017 Jun 12 doi: 10.1111/epi.13813. PMID: 28605011
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H
Neurology 2016 Nov 22;87(21):2206-2213. Epub 2016 Oct 21 doi: 10.1212/WNL.0000000000003352. PMID: 27770071
Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.
Hagebeuk EE, Marcelis CL, Alders M, Kaspers A, de Weerd AW
J Child Neurol 2015 Oct;30(11):1515-9. Epub 2015 Mar 11 doi: 10.1177/0883073815573317. PMID: 25762588

Clinical prediction guides

Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials.
Saldaris JM, Jacoby P, Leonard H, Benke TA, Demarest S, Marsh ED, Downs J
Epilepsy Behav 2023 Feb;139:109069. Epub 2023 Jan 10 doi: 10.1016/j.yebeh.2022.109069. PMID: 36634535Free PMC Article
Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder.
Leonard H, Junaid M, Wong K, Aimetti AA, Pestana Knight E, Downs J
Epilepsia 2022 Feb;63(2):352-363. Epub 2021 Nov 27 doi: 10.1111/epi.17125. PMID: 34837650
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H
Clin Genet 2021 Jan;99(1):157-165. Epub 2020 Oct 20 doi: 10.1111/cge.13862. PMID: 33047306
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
MacKay CI, Bick D, Prokop JW, Muñoz I, Rouse J, Downs J, Leonard H
Am J Med Genet A 2020 May;182(5):1217-1222. Epub 2020 Feb 8 doi: 10.1002/ajmg.a.61504. PMID: 32034940
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H
Neurology 2016 Nov 22;87(21):2206-2213. Epub 2016 Oct 21 doi: 10.1212/WNL.0000000000003352. PMID: 27770071

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