Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica"
DOI: 10.1007/s00401-019-02109-6
Abstract: Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of… read more here.
Keywords: isoform; isoform specific; start loss; specific start ... See more keywords
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13970
Abstract: The glycine cleavage system H protein (GCSH) is an integral part of the glycine cleavage system with its additional involvement in the synthesis and transport of lipoic acid. We hypothesize that pathogenic variants in GCSH… read more here.
Keywords: biallelic start; variant nonketotic; variant gcsh; loss variant ... See more keywords