Article

A BRAT1 synonymous mutation affecting exon splicing leads to lethal neonatal rigidity and multifocal seizure syndrome: A Chinese case report.

2022-11-02

Abstract excerpt

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL, OMIM#614498), is caused by mutations of the BRAT1 gene. Our patient had the typical syndromes of RMFSL, and Trio whole exome sequencing (trio-WES) identified a homozygous synonymous variant ( BRAT1 C.1395(exon10)G > C). Given that the pathogenicity of synonymous mutation (p.Thr465Thr) is most likely underestimated, a further transcriptional study of...

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Literature Corpus work: ef102e7e-ad4f-5cc8-9c0a-e945cbb6133d
DOI: 10.21203/rs.3.rs-2229166/v1

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