Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

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Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

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Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe et al. · The American Journal of Human Genetics · 2004 · 323 citations · Full text

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Francesca Mari, Sara Azimonti, Ilaria Bertani et al. · Human Molecular Genetics · 2005 · 318 citations · Full text

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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Stephanie Fehr, Meredith Wilson, Jenny Downs et al. · European Journal of Human Genetics · 2012 · 314 citations

Medicine, Neurology, Neuroscience +7