Associated Papers
Early-onset epileptic encephalopathy combined with cerebellar ataxia: A case report expanding the phenotypic spectrum of UBA5-related disorders.
Mustafa F et al.
Parkinsonism & Related Disorders, 2026
UBA5-epileptic encephalopathy: new patient, a novel variant, and a review of epileptic phenotypes.
Cinnirella C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
A guide to UFMylation, an emerging posttranslational modification.
Millrine D et al.
The Febs Journal, 2023
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Briere LC et al.
Cold Spring Harbor Molecular Case Studies, 2021
33811063 (PubMed )
Supplement: supp_mcs.a005827_Supplemental_Table_S2.xlsx › Sheet1
Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.
Daida A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA et al.
Bmc Medical Genetics, 2017
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