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

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL) (OMIM# 614498) is a rare and recently characterized epileptic encephalopathy that is related to variants in the BRAT1 gene (Breast Cancer 1-associated ataxia telangiectasia mutated activation-1 protein). In this report, an RMFSL case,...

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Detalles Bibliográficos
Autores principales: Celik, Yalcin, Okuyaz, Cetin, Arslankoylu, Ali Ertug, Ceylaner, Serdar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516089/
https://www.ncbi.nlm.nih.gov/pubmed/28752061
http://dx.doi.org/10.1016/j.ebcr.2017.05.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516089/
https://www.ncbi.nlm.nih.gov/pubmed/28752061
http://dx.doi.org/10.1016/j.ebcr.2017.05.003

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