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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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| Vydáno v: | Acta Neurol Belg |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer International Publishing
2020
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| Témata: | |
| On-line přístup: | 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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