Article
Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report.
BMC pediatrics - 3 Dec 2021
Tian Yang, Shi Zhen, Hou Chi, Li Wenjuan, Wang Xiuying, Zhu Haixia, Li Xiaojing, Chen Wen-Xiong
Abstract excerpt
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 scaffolding protein that interacts with other proteins at the postsynaptic density to regulate dendritic spines and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.