Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families

Intellectual disability and developmental encephalopathies are mostly linked with infant epilepsy. Epileptic encephalopathy is a term that is used to define association between developmental delay and epilepsy. Mutations in the STXBP1 (Syntaxin-binding protein 1) gene have been previously reported i...

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Detalles Bibliográficos
Autores principales: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrhman, Rasool, Mahmood, Shirah, Bader, Algahtani, Hussein, Muthaffar, Osama Y., Pushparaj, Peter Natesan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160351/
https://www.ncbi.nlm.nih.gov/pubmed/35663845
http://dx.doi.org/10.1016/j.sjbs.2022.103309

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160351/
https://www.ncbi.nlm.nih.gov/pubmed/35663845
http://dx.doi.org/10.1016/j.sjbs.2022.103309

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