Article
A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel.
Clinica chimica acta; international journal of clinical chemistry - 1 May 2022
Xiong Juan, Chen Shimeng, Chen Baiyu, Zhang Wen, Chen Chen, Deng Xiaolu, He Fang, Zhang Ciliu, Yang Lifen, Wang Ying, Peng Jing, Yin Fei
Abstract excerpt
BACKGROUND: Heterozygous variants of KCNQ2 can cause KCNQ2 associated neurodevelopmental disorder, mainly are benign (familial) neonatal or infantile epilepsy (B(F)NE or B(F)IE) and developmental epileptic encephalopathy(DEE). Moreover, some intermediate phenotypes, including intellectual disability (ID), and myokymia are related to the gene. METHODS: We collected a non-syndromic ID male patient with a novel...
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