Article
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Cold Spring Harbor molecular case studies - 1 Jun 2021
Briere Lauren C, Walker Melissa A, High Frances A, Cooper Cynthia, Rogers Cassandra A, Callahan Christine J, Ishimura Ryosuke, Ichimura Yoshinobu, Caruso Paul A, Sharma Nutan, Brokamp Elly, Koziura Mary E, Mohammad Shekeeb S, Dale Russell C, Riley Lisa G, Phillips John A, Komatsu Masaaki, Sweetser David A
Abstract excerpt
Early infantile epileptic encephalopathy-44 (EIEE44, MIM: 617132) is a previously described condition resulting from biallelic variants in UBA5, a gene involved in a ubiquitin-like post-translational modification system called UFMylation. Here we report five children from four families with biallelic pathogenic variants in UBA5 All five children presented with global developmental delay, epilepsy, axial...
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