Early onset seizures and Rett-like features associated with mutations in CDKL5

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

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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 human ortholog of Aristaless cause X-linked mental retardation and epilepsy

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An update on clinically applicable diagnostic criteria in Rett syndrome

Bengt Hagberg, F. Hanefeld, Alan K. Percy et al. · European Journal of Paediatric Neurology · 2002 · 394 citations

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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

Life Sciences, Genetics, Molecular Genetics +16