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

We present a case of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) in an early-term female infant born to non-consanguineous parents. RMFSL is a recently discovered autosomal recessive disease caused by the BRAT1 gene mutations. The BRAT1 gene encodes the BRCA1-associated protein...

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Detalles Bibliográficos
Autores principales: Balasundaram, Palanikumar, Fijas, Melanie, Nafday, Suhas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007887/
https://www.ncbi.nlm.nih.gov/pubmed/33816000
http://dx.doi.org/10.7759/cureus.13600

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007887/
https://www.ncbi.nlm.nih.gov/pubmed/33816000
http://dx.doi.org/10.7759/cureus.13600

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