Novel CDKL5 targets identified in human iPSC-derived neurons.
Massey S, Ang CS, Davidson NM, Quigley A, Rollo B, Harris AR, Kapsa RMI, Christodoulou J, Van Bergen NJ., Free PMC Article

First report of Tunisian patients with CDKL5-related encephalopathy.
Charfi Triki C, Zouari Mallouli S, Ben Jdila M, Ben Said M, Kamoun Feki F, Weckhuysen S, Masmoudi S, Fakhfakh F., Free PMC Article

Growth patterns in individuals with CDKL5 deficiency disorder.
Wong K, Davies G, Leonard H, Downs J, Junaid M, Amin S.

CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Daniels C, Greene C, Smith L, Pestana-Knight E, Demarest S, Zhang B, Benke TA, Poduri A, Olson HE, CDKL5 Study Group.,

CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description.
Pestana Knight EM, Olson HE.,

Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
Sampedro-Castañeda M, Baltussen LL, Lopes AT, Qiu Y, Sirvio L, Mihaylov SR, Claxton S, Richardson JC, Lignani G, Ultanir SK., Free PMC Article

CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome.
Liao W, Lee KZ.

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.
Ziniel SI, Mackie A, Saldaris J, Leonard H, Jacoby P, Marsh ED, Suter B, Pestana-Knight E, Olson HE, Price D, Weisenberg J, Rajaraman R, VanderVeen G, Benke TA, Downs J, Demarest S., Free PMC Article

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Specchio N, Trivisano M, Lenge M, Ferretti A, Mei D, Parrini E, Napolitano A, Rossi-Espagnet C, Talenti G, Longo D, Proietti J, Ragona F, Freri E, Solazzi R, Granata T, Darra F, Bernardina BD, Vigevano F, Guerrini R., Free PMC Article

CDKL5 Deficiency Disorder Without Epilepsy.
Aznar-Laín G, Fernández-Mayoralas DM, Caicoya AG, Rocamora R, Pérez-Jurado LA.

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., Free PMC Article

Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder.
Stansauk J, Fidell A, Benke T, Schaffer M, Demarest ST., Free PMC Article

CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.
Takahashi S, Takeguchi R, Tanaka R, Fukuoka M, Koike T, Ohtani H, Inoue K, Fukuda M, Kurahashi H, Nakamura K, Tominaga K, Matsubayashi T, Itoh M, Tanaka T.

Neuronal hyperexcitability and ion channel dysfunction in CDKL5-deficiency patient iPSC-derived cortical organoids.
Wu W, Yao H, Negraes PD, Wang J, Trujillo CA, de Souza JS, Muotri AR, Haddad GG.

CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S., Free PMC Article

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Kluckova D, Kolnikova M, Medova V, Bognar C, Foltan T, Svecova L, Gnip A, Kadasi L, Soltysova A, Ficek A.

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.
Peron A, Canevini MP, Ghelma F, Arancio R, Savini MN, Vignoli A., Free PMC Article

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder.
Leonard H, Junaid M, Wong K, Demarest S, Downs J.

CDKL5 deficiency disorder in males: Five new variants and review of the literature.
Siri B, Varesio C, Freri E, Darra F, Gana S, Mei D, Porta F, Fontana E, Galati G, Solazzi R, Niceta M, Veggiotti P, Alfei E.

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.

Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.
Jdila MB, Triki CC, Ghorbel R, Bouchalla W, Ncir SB, Kamoun F, Fakhfakh F.

Dopaminergic loss of cyclin-dependent kinase-like 5 recapitulates methylphenidate-remediable hyperlocomotion in mouse model of CDKL5 deficiency disorder.
Jhang CL, Lee HY, Chen JC, Liao W.

Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models.
La Montanara P, Hervera A, Baltussen LL, Hutson TH, Palmisano I, De Virgiliis F, Kong G, Chadwick J, Gao Y, Bartus K, Majid QA, Gorgoraptis N, Wong K, Downs J, Pizzorusso T, Ultanir SK, Leonard H, Yu H, Millar DS, Istvan N, Mazarakis ND, Di Giovanni S., Free PMC Article

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Aldosary M, Al-Bakheet A, Al-Dhalaan H, Almass R, Alsagob M, Al-Younes B, AlQuait L, Mustafa OM, Bulbul M, Rahbeeni Z, Alfadhel M, Chedrawi A, Al-Hassnan Z, AlDosari M, Al-Zaidan H, Al-Muhaizea MA, AlSayed MD, Salih MA, AlShammari M, Faiyaz-Ul-Haque M, Chishti MA, Al-Harazi O, Al-Odaib A, Kaya N, Colak D.

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.
Yan Y, He D, Wu J, Hou R, Sun K, Li L., Free PMC Article