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

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 a...

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Detalles Bibliográficos
Autores principales: Li, Shan, Yu, Shunan, Zhang, Yanzhuo, Wang, Ying, Jiang, Xu, Wu, Chengai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834191/
https://www.ncbi.nlm.nih.gov/pubmed/36367347
http://dx.doi.org/10.1002/mgg3.2092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834191/
https://www.ncbi.nlm.nih.gov/pubmed/36367347
http://dx.doi.org/10.1002/mgg3.2092

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