Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report

BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy that can be caused by brain malformations or genetic mutations. Recently, genome-wide association studies have led to the identification of novel mutations associated with LGS. The TANC2 gene, encodes a synaptic scaffoldi...

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Detalles Bibliográficos
Autores principales: Tian, Yang, Shi, Zhen, Hou, Chi, Li, Wenjuan, Wang, Xiuying, Zhu, Haixia, Li, Xiaojing, Chen, Wen-Xiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641204/
https://www.ncbi.nlm.nih.gov/pubmed/34861844
http://dx.doi.org/10.1186/s12887-021-03021-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641204/
https://www.ncbi.nlm.nih.gov/pubmed/34861844
http://dx.doi.org/10.1186/s12887-021-03021-3

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