Articles with "nprl3 gene" as a keyword



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Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy

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Published in 2023 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2023.1113747

Abstract: 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… read more here.

Keywords: nprl3 related; nprl3 gene; clinical phenotypic; phenotypic genotypic ... See more keywords