Clinical variability at the mild end of BRAT1-related spectrum: evidence from two families with genotype-phenotype discordance.
Sign Up to like & getrecommendations! Published in 2021 at "Human mutation"
DOI: 10.1002/humu.24293
Abstract: Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) to neurodevelopmental disorder and cerebellar atrophy with or without seizures (NEDCAS),… read more here.
Keywords: clinical variability; brat1 related; genotype phenotype; two families ... See more keywords
BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nly093
Abstract: Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) (OMIM#614498) is caused by homozygous or compound heterozygous mutation in the BRAT1 gene (OMIM#614506) on chromosome 7p22. We report a newborn female infant born to non-consanguineous Chinese… read more here.
Keywords: first reported; brat1; reported case; case chinese ... See more keywords
Serum Anti-BRAT1 is a Common Molecular Biomarker for Gastrointestinal Cancers and Atherosclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.870086
Abstract: Atherosclerosis (AS) and cancers are major global causes of mortality and morbidity. They also share common modifiable pathogenesis risk factors. As the same strategies used to predict AS could also detect certain cancers, we sought… read more here.
Keywords: serum brat1; biomarker; serum; brat1 ... See more keywords