Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy

BACKGROUND: As one of the assembly factors of the GATOR1 protein complex in the mechanism of rapamycin pathway, NPRL3 plays an important role in the pathogenesis of epilepsy. However, the correlation between genotype and clinical phenotype in patients with NPRL3-related epilepsy has not been clarifi...

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Detalles Bibliográficos
Autores principales: Zhang, Hongwei, Deng, Jie, Wang, Xiaohui, Chen, Chunhong, Chen, Shuhua, Dai, Lifang, Fang, Fang
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/PMC10018541/
https://www.ncbi.nlm.nih.gov/pubmed/36937533
http://dx.doi.org/10.3389/fneur.2023.1113747

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10018541/
https://www.ncbi.nlm.nih.gov/pubmed/36937533
http://dx.doi.org/10.3389/fneur.2023.1113747

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