A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review

NPRL2 (nitrogen permease regulator like 2) is a component of the GATOR1(GAP activity towards rags complex 1) proteins, which is an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. GATOR1 complex variations were reported to correlate with familial focal epilepsy with variable foci (F...

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Detalles Bibliográficos
Autores principales: Zhang, Jia, Shen, Yajun, Yang, Zuozhen, Yang, Fan, Li, Yang, Yu, Bo, Chen, Wanlin, Gan, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8786660/
https://www.ncbi.nlm.nih.gov/pubmed/34376795
http://dx.doi.org/10.1038/s10038-021-00969-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8786660/
https://www.ncbi.nlm.nih.gov/pubmed/34376795
http://dx.doi.org/10.1038/s10038-021-00969-z

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