AUTHOR=Geng Yuehang , Hou Xinlin 

TITLE=KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report

JOURNAL=Frontiers in Neurology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2020.00263

DOI=10.3389/fneur.2020.00263

ISSN=1664-2295

ABSTRACT=<p><bold>Introduction:</bold> Mutations in <italic>KCNQ2</italic> 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.</p><p><bold>Case Presentation:</bold> 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 <italic>de novo</italic> mutation in <italic>KCNQ2</italic> [c.794C&gt;T; <italic>p</italic>. (Ala265Val)], a known pathogenic variant for KCNQ2-NEE. Interestingly, ventricular tachycardia was incidentally found on electrocardiography.</p><p><bold>Conclusions:</bold> We here suggest the possibility of a potential electrophysiologic link between the two phenotypes and that they may be attributable to the same <italic>de novo</italic> mutation.</p>