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...

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Detalles Bibliográficos
Autores principales: Wang, Haiping, Chen, Xiuli, Liu, Zhanli, Chen, Chen, Liu, Xin, Huang, Mingwei, Zhou, Zhuying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086123/
https://www.ncbi.nlm.nih.gov/pubmed/37056358
http://dx.doi.org/10.3389/fneur.2023.1146875

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086123/
https://www.ncbi.nlm.nih.gov/pubmed/37056358
http://dx.doi.org/10.3389/fneur.2023.1146875

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