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Case report: A novel de novo variant of NACC1 caused epileptic encephalopathy and intellectual disability

BackgroundGenetic disorders could also contribute to intellectual disability. Using whole exome sequencing (WES), several variants have been identified as autosomal-dominant inheritance intellectual disability. Thus, the application of WES has demonstrated its critical role in distinguishing intelle...

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Principais autores: Jiahao Wu, Jing Gan, Yimin Hua, Yifei Li, Di Qie
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2024-10-01
סדרה:Frontiers in Psychiatry
נושאים:
NACC1
WES
intellectual disability
epileptic encephalopathy
neurological developmental disorder
גישה מקוונת:https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1446698/full
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