Geng Yuehang, Hou Xinlin
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Front Neurol. 2020 Apr 17;11:263. doi: 10.3389/fneur.2020.00263. eCollection 2020.
Mutations in are related to a spectrum of neonatal epileptic phenotypes. Here we report a case of KCNQ2-related neonatal epileptic encephalopathy (KCNQ2-NEE) that is complicated by an incidentally found ventricular tachycardia. An infant boy presented with very early onset refractory focal tonic seizures and developmental delay, and was diagnosed with epilepsy. Trio-whole exome sequencing identified a previously reported mutation in [c.794C>T; . (Ala265Val)], a known pathogenic variant for KCNQ2-NEE. Interestingly, ventricular tachycardia was incidentally found on electrocardiography. We here suggest the possibility of a potential electrophysiologic link between the two phenotypes and that they may be attributable to the same mutation.
相关基因突变与一系列新生儿癫痫表型有关。在此，我们报告一例与KCNQ2相关的新生儿癫痫性脑病（KCNQ2-NEE），该病例并发了偶然发现的室性心动过速。一名男婴出现极早发的难治性局灶性强直发作和发育迟缓，被诊断为癫痫。三联全外显子测序在[基因名称]中鉴定出一个先前报道的突变[c.794C>T；（丙氨酸265缬氨酸）]，这是KCNQ2-NEE的一个已知致病变体。有趣的是，心电图检查偶然发现了室性心动过速。我们在此提出两种表型之间可能存在潜在电生理联系的可能性，并且它们可能归因于同一个[基因名称]突变。
