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Page 1
The natural history of CDKL5 deficiency disorder into adulthood.
Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, Fenger CD, Laze J, Rossi A, Trivisano M, Gonzalez-Giraldez B, Lama J, Krey I, Platzer K, Brischoux-Boucher E, Sarret C, Lomax LB, Zanus C, Musante L, Costa P, Moloney P, Delanty N, Russo A, Schönewolf-Greulich B, Bisgaard AM, Berger C, Freri E, Takahashi S, Zacher P, Jung J, Demarest S, Marsh E, Percy A, Neul J, Olson H, Swanson L, Meletti S, Cioclu MC, Ali QZ, Suller A, Beltran-Corbellini A, Gil-Nagel A, Zhang X, Previtali R, Højte AF, Specchio N, Downs J, Lesca G, Rubboli G, Andrade D, Gardella E, Pestana E, Devinsky O, Benke T, Helbig I, Thomas R, Møller RS. Aledo-Serrano A, et al. Among authors: hojte af. medRxiv [Preprint]. 2025 Jan 13:2025.01.12.24318239. doi: 10.1101/2025.01.12.24318239. medRxiv. 2025. PMID: 39867409 Free PMC article. Preprint.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D. Bayat A, et al. Among authors: hojte af. Genet Med. 2023 Sep;25(9):100894. doi: 10.1016/j.gim.2023.100894. Epub 2023 May 11. Genet Med. 2023. PMID: 37183800 Free article.