Compound heterozygous loss‐of‐function variants in <i>BRAT1</i> cause lethal neonatal rigidity and multifocal seizure syndrome-Reference-Cited by-同舟云学术

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

Published:2022-11-11 Issue:1 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Li Shan¹^ORCID,Yu Shunan¹,Zhang Yanzhuo¹,Wang Ying¹,Jiang Xu²,Wu Chengai¹

Affiliation:

1. Department of Molecular Orthopaedics Beijing Research Institute of Traumatology and Orthopaedics, Beijing Jishuitan Hospital Beijing China

2. Department of Orthopaedics, Beijing Jishuitan Hospital The Fourth Clinical Medical College of Peking University Beijing China

Funder

National Natural Science Foundation of China

Beijing Municipal Health Commission

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2092

Reference35 articles.

1. A Rare Case of Lethal Neonatal Rigidity and Multi-Focal Seizure Syndrome

2. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

3. Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes

4. Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1

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