Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders

BACKGROUND: KCNQ2-related disorder is typically characterized as neonatal onset seizure and epileptic encephalopathy. The relationship between its phenotype and genotype is still elusive. This study aims to provide clinical features, management, and prognosis of patients with novel candidate variant...

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Detalles Bibliográficos
Autores principales: Xiao, Tiantian, Chen, Xiang, Xu, Yan, Chen, Huiyao, Dong, Xinran, Yang, Lin, Wu, Bingbing, Chen, Liping, Li, Long, Zhuang, Deyi, Chen, Dongmei, Zhou, Yuanfeng, Wang, Huijun, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9088225/
https://www.ncbi.nlm.nih.gov/pubmed/35557555
http://dx.doi.org/10.3389/fnmol.2022.809810

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