Phenotypes in Children With SYNGAP1 Encephalopathy in China

Objective: We aimed to explore the associated clinical phenotype and the natural history of patients with SYNGAP1 gene variations during early childhood and to identify their genotype–phenotype correlations.Methods: This study used a cohort of 13 patients with epilepsy and developmental disorder due...

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Auteurs principaux: Huiting Zhang, Liu Yang, Jing Duan, Qi Zeng, Li Chen, Yu Fang, Junjie Hu, Dezhi Cao, Jianxiang Liao
Format: article
Langue:EN
Publié: Frontiers Media S.A. 2021
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Accès en ligne:https://doaj.org/article/b948545f29714b828e2b522d85a7dfbb
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