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Comment
. 2020 Mar 1;143(3):716-718.
doi: 10.1093/brain/awaa055.

Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder

Affiliations
Comment

Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder

Tim A Benke et al. Brain. .

Abstract

This scientific commentary refers to ‘Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder’, by Gao etal. (doi:10.1093/brain/awaa028).

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References

    1. Demarest ST, Olson HE, Moss A, Pestana-Knight E, Zhang X, Parikh S, et al.CDKL5 deficiency disorder: relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia 2019; 60: 1733–42. - PMC - PubMed
    1. Devinsky O, Verducci C, Thiele EA, Laux LC, Patel AD, Filloux F, et al.Open-label use of highly purified CBD (Epidiolex(R)) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes. Epilepsy Behav 2018; 86: 131–7. - PubMed
    1. Gao Y, Irvine E, Eleftheriadou I, Jimenez Naranjo C, Bosch L, Glegola J, et al.Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder. Brain 2020; 143: 811–832. - PubMed
    1. Garg SK, Lioy DT, Cheval H, McGann JC, Bissonnette JM, Murtha MJ, et al.Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. J Neurosci 2013; 33: 13612–20. - PMC - PubMed
    1. Guy J, Gan J, Selfridge J, Cobb S, Bird A.. Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007; 315: 1143–7. - PMC - PubMed

Supplementary concepts