Article
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
American journal of medical genetics. Part A - 1 Dec 2022
Keehan Laura, Haviland Isabel, Gofin Yoel, Swanson Lindsay C, El Achkar Christelle Moufawad, Schreiber John, VanNoy Grace E, O'Heir Emily, O'Donnell-Luria Anne, Lewis Richard Alan, Magoulas Pilar, Tran Alyssa, Azamian Mahshid S, Chao Hsiao-Tuan, Pham Lisa, Samaco Rodney C, Elsea Sarah, Thorpe Erin, Kesari Akanchha, Perry Denise, Lee Brendan, Lalani Seema R, Rosenfeld Jill A, Olson Heather E, Burrage Lindsay C
Abstract excerpt
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is caused by heterozygous or hemizygous variants in CDKL5 and is characterized by refractory epilepsy, cognitive and motor impairments, and cerebral visual impairment. CDKL5 has multiple transcripts, of which the longest transcripts, NM_003159 and NM_001037343, have been used historically in clinical laboratory testing. However, the transcript...
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