Key result
A de novo mutation in KCNQ2 [c.794C>T; p. (Ala265Val)] was identified in an infant boy presenting with neonatal epileptic encephalopathy and incidentally discovered ventricular tachycardia.
Why the study?
Mutations in KCNQ2 are related to neonatal epileptic phenotypes, but their co-occurrence with ventricular tachycardia was described to explore a potential electrophysiologic link.
Case Report (n=1)
This case report suggests a potential electrophysiologic link between KCNQ2-neonatal epileptic encephalopathy and ventricular tachycardia, possibly attributable to the same de novo mutation.
Answers are grounded in this paper and cite their sources.
May suggest arrhythmia risk in KCNQ2 encephalopathy; hypothesis-generating and requires confirmation before clinical adoption.
Introduction: Mutations in KCNQ2 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. Case presentation: 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 de novo mutation in KCNQ2 [c.794C>T; p.(Ala265Val)], a known pathogenic variant for KCNQ2-NEE. Interestingly, ventricular tachycardia was incidentally found on electrocardiography. Conclusions: We here suggest the possibility of a potential electrophysiologic link between the two phenotypes and that they may be attributable to the same de novo mutation.
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Geng et al. (2020) conducted a case report in KCNQ2-Neonatal Epileptic Encephalopathy complicated by Ventricular Tachycardia (n=1). KCNQ2 mutation [c.794C>T; p. (Ala265Val)] was evaluated on Clinical presentation of epilepsy and ventricular tachycardia. A de novo mutation in KCNQ2 [c.794C>T; p. (Ala265Val)] was identified in an infant boy presenting with neonatal epileptic encephalopathy and incidentally discovered ventricular tachycardia.
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