A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood

Pathogenic variants in BRAT1 are associated with a spectrum of clinical syndromes ranging from Lethal Neonatal Rigidity and Multifocal Seizure syndrome (RMFSL) to Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures (NEDCAS). RMFSL is characterized by early-onset multifoc...

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Detalles Bibliográficos
Autores principales: Fowkes, Ross, Elwan, Menatalla, Akay, Ela, Mitchell, Clinton J, Thomas, Rhys H, Lewis-Smith, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9126772/
https://www.ncbi.nlm.nih.gov/pubmed/35620305
http://dx.doi.org/10.1016/j.ebr.2022.100549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9126772/
https://www.ncbi.nlm.nih.gov/pubmed/35620305
http://dx.doi.org/10.1016/j.ebr.2022.100549

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