Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders
STXBP1 variants are one of the most common genetic causes of neurodevelopmental disorders and epilepsy, wherein STXBP1-related disorders are characterized by neurodevelopmental abnormalities in 95% and seizures in 89% of affected patients. However, the spectrums of both genotype and phenotype are qu...
Сохранить в:
| Главные авторы: | , , , , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Frontiers Media S.A.
2023-03-01
|
| Серии: | Frontiers in Neurology |
| Предметы: | |
| Online-ссылка: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1146875/full |
| Метки: |
Нет меток, Требуется 1-ая метка записи!
|