SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation

BACKGROUND: Recessive SZT2 variants are reported to be associated with developmental and epileptic encephalopathy 18 (DEE-18) and occasionally neurodevelopment abnormalities (NDD) without seizures. This study aims to explore the phenotypic spectrum of SZT2 and the genotype-phenotype correlation. MET...

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Detalles Bibliográficos
Autores principales: Luo, Sheng, Ye, Xing-Guang, Jin, Liang, Li, Huan, He, Yun-Yan, Guan, Bao-Zhu, Gao, Liang-Di, Liang, Xiao-Yu, Wang, Peng-Yu, Lu, Xin-Guo, Yan, Hong-Jun, Li, Bing-Mei, Chen, Yong-Jun, Liu, Zhi-Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198435/
https://www.ncbi.nlm.nih.gov/pubmed/37213690
http://dx.doi.org/10.3389/fnmol.2023.1162408

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