American journal of medical genetics. Part A
A Novel KCNQ2 Gain-of-Function Variant I134N Causes Severe Developmental and Epileptic Encephalopathy.
Fengmei Zeng, Xiaoying Ye, Zhaobing Gao, Fuyun Tian, Yanwen Shen
Published: 202610.1002/ajmga.70044
Abstract
Missense variants in the KCNQ2 gene can cause developmental and epileptic encephalopathy (DEE). While most KCNQ2-DEE cases are attributed to loss-of-function (LOF) mutations, gain-of-function (GOF) mutations have also been implicated in the disorder.…
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