Department of Pediatrics, 12306The Ohio State University, Columbus, OH, USA.
Division of Pediatric Neurology, 2650Nationwide Children's Hospital, Columbus, OH, USA.
J Child Neurol. 2022 May;37(6):517-523. doi: 10.1177/08830738221089741. Epub 2022 Apr 6.
Mutations in have classically been associated with benign familial neonatal and infantile seizures and more recently identified in patients with neurodevelopmental disorders and abnormal electroencephalogram (EEG) findings. We present 4 affected patients from a family with a pathogenic mutation in with a unique constellation of clinical findings.
A family of 3 affected siblings and mother sharing a pathogenic variant are described, including clinical history, genetic results, and EEG and magnetic resonance imaging (MRI) findings.
This family shows a variety of clinical manifestations, including neonatal seizures, developmental delays, autism spectrum disorder, and anxiety. One child developed absence epilepsy, 2 children have infrequent convulsive seizures that have persisted into childhood, and their parent developed adult-onset epilepsy. An underlying c.1091G>A (R364H) variant in was found in all affected individuals.
The phenotypic variability of KCNQ3 channelopathies continues to expand as more individuals and families are described, and the variant identified in this family adds to the understanding of the manifestations of -related disorders.
先前已证实 中的突变与良性家族性新生儿和婴儿癫痫有关，最近又在伴有神经发育障碍和脑电图（EEG）异常的患者中发现了这些突变。我们报道了一个家系中的 4 名受影响的患者，他们均携带致病性的 突变，且具有独特的临床表现组合。
我们描述了一个由 3 名受影响的兄弟姐妹和携带致病性变异的母亲组成的家系，包括临床病史、遗传结果以及 EEG 和磁共振成像（MRI）结果。
该家系表现出多种临床表现，包括新生儿癫痫、发育迟缓、自闭症谱系障碍和焦虑。一名患儿出现失神癫痫，2 名患儿出现偶发性惊厥性癫痫，且这些癫痫持续到了儿童期，其母亲则发展为成年期癫痫。在所有受影响的个体中均发现了 KCNQ3 通道病的潜在 c.1091G>A（R364H）变异。
随着越来越多的个体和家庭被描述，KCNQ3 通道病的表型变异性不断扩大，而本研究中发现的变异则增加了对 -相关疾病表现的理解。
