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Article

Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.

Molecular genetics & genomic medicine - 1 Jan 2023

Li Shan, Yu Shunan, Zhang Yanzhuo, Wang Ying, Jiang Xu, Wu Chengai

Abstract excerpt

BACKGROUND: Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498) is a rare autosomal recessive disease characterized by the onset of rigidity and intractable seizures at or soon after birth. The BRAT1 has been identified to be the disease-causing gene for RMFSL. This study aimed to determine the underlying pathogenic mutations of a Chinese family with RMFSL and to confirm the effect of...

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PMID: 36367347
DOI: 10.1002/mgg3.2092
PMCID: PMC9834191

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