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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Acta Neurol Belg
Egile Nagusiak: Colak, Fatma Kurt, Guleray, Naz, Azapagasi, Ebru, Yazıcı, Mutlu Uysal, Aksoy, Erhan, Ceylan, Nesrin
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2020
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7547818/
https://ncbi.nlm.nih.gov/pubmed/33040300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13760-020-01513-0
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