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Article

Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.

Pediatric research - 1 Feb 2022

Li Weixi, Wu Shuiyan, Xu Huizhong, Zhao Xiaoying, Pan Yizhi, Huang Hongbiao, Lv Haitao, Zhu Xueping, Liu Ying

Abstract excerpt

BACKGROUND: Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is caused by variants in BRAT1 (BRCA1-associated protein required for ATM activation-1). However, the molecular mechanism of RMFSL is still unclear. METHODS: An RMFSL infant was recruited and the peripheral blood samples from his trio-family were collected. The genomic DNA was extracted, and then the whole-exome sequencing was performed....

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PMID: 33790413
DOI: 10.1038/s41390-021-01468-9

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