An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity

BRAT1-related neurodevelopmental disorders are characterized by heterogeneous phenotypes with varying levels of clinical severity. Since the discovery of BRAT1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498), these variants have als...

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Detalles Bibliográficos
Autores principales: Colak, Fatma Kurt, Guleray, Naz, Azapagasi, Ebru, Yazıcı, Mutlu Uysal, Aksoy, Erhan, Ceylan, Nesrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7547818/
https://www.ncbi.nlm.nih.gov/pubmed/33040300
http://dx.doi.org/10.1007/s13760-020-01513-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7547818/
https://www.ncbi.nlm.nih.gov/pubmed/33040300
http://dx.doi.org/10.1007/s13760-020-01513-0

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