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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...
Autores principales: | Zhang, Hongwei, Deng, Jie, Wang, Xiaohui, Chen, Chunhong, Chen, Shuhua, Dai, Lifang, Fang, Fang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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