Article
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
American journal of medical genetics. Part A - 1 Jan 2025
Haviland Isabel, Hector Ralph D, Swanson Lindsay C, Verran Aubrie Soucy, Sherrill Emma, Frazier Zoë, Denny AnneMarie M, Lucash Jenna, Zhang Bo, Dubbs Holly A, Marsh Eric D, Weisenberg Judith L, Leonard Helen, Crippa Milena, Cogliati Francesca, Russo Silvia, Suter Bernhard, Rajaraman Rajsekar, Percy Alan K, Schreiber John M, Demarest Scott, Benke Timothy A, Chopra Maya, Yu Timothy W, Olson Heather E
Abstract excerpt
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. Deletions affecting the 5' untranslated region (UTR) of CDKL5, which involve the noncoding exon 1 and/or alternatively spliced first exons (exons 1a-e), are uncommonly reported. We describe genetic and phenotypic characteristics...
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