Journal
JOURNAL OF HUMAN GENETICS
Volume 59, Issue 12, Pages 687-690Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2014.91
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Funding
- Japanese Ministry of Health, Labour, and Welfare
- Japan Society for the Promotion of Science [25293085, 25293235]
- Takeda Science Foundation
- fund for Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems
- Strategic Research Program for Brain Sciences [11105137]
- Japanese Ministry of Education, Culture, Sports, Science, and Technology [12024421]
- [26670505]
- [13313587]
- Grants-in-Aid for Scientific Research [25293235] Funding Source: KAKEN
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Homozygous frameshift BRAT1 mutations were found in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). Here, we report on two siblings with compound heterozygous mutations in BRAT1. They had intractable seizures from neonatal period, dysmorphic features and hypertonia. Progressive microcephaly was also observed. Initial electroencephalogram showed a suppression-burst pattern, leading to a diagnosis of Ohtahara syndrome. They both died from pneumonia at 1 year and 3 months, respectively. Whole-exome sequencing of one patient revealed a compound heterozygous BRAT1 mutations (c.176T > C (p.Leu59Pro) and c.962_963del (p.Leu321Profs*81)). We are unable to obtain DNA from another patient. The p.Leu59Pro mutation occurred at an evolutionarily conserved amino acid in a CIDE-N (N-terminal of an cell death-inducing DFF45-like effector) domain, which has a regulatory role in the DNA fragmentation pathway of apoptosis. Our results further support that mutations of BRAT1 could lead to epileptic encephalopathy.
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