Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Citation:
Haviland I, Hector RD, Swanson LC, ……..  Leonard H, Crippa M, et al. Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet Part A. 2024.

Keywords:
5′ UTR; CDKL5; alternatively spliced exons; developmental and epileptic encephalopathy; exon 1; genotypic spectrum.

Abstract:
Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.