Insight into Genetic Mutations of SZT2: Is It a Syndrome?

Background: The seizure threshold 2 (SZT2) gene encodes a protein of unknown function, which is widely expressed, confers a low seizure threshold, and enhances epileptogenesis. It also comprises the KICSTOR protein complex, which inhibits the mTORC1 pathway. A pathogenic variant in the SZT2 gene cou...

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Detalles Bibliográficos
Autores principales: Muthaffar, Osama Y., Jan, Mohammed M. S., Alyazidi, Anas S., Alotibi, Taif K., Alsulami, Eman A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10525120/
https://www.ncbi.nlm.nih.gov/pubmed/37760843
http://dx.doi.org/10.3390/biomedicines11092402

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10525120/
https://www.ncbi.nlm.nih.gov/pubmed/37760843
http://dx.doi.org/10.3390/biomedicines11092402

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