January 1, 2018Open Access
Epilepsy in patients with long QT syndrome type 1: A Norwegian family
Key Result
Mutations in the KCNQ1 gene causing congenital long QT syndrome type 1 can co-exist with and potentially cause epilepsy, as demonstrated in a Norwegian family.
Study Design
Type
Case Report (n=5)
Multicenter
No
PICO
P
Population
Long QT syndrome type 1 (LQT1) and epilepsy (n=5)
Abstract
The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudden cardiac death. We describe a Norwegian family with mutations within the KCNQ1 gene causing cLQTS type 1 (LQT1) and epilepsy. The index patient had Jervell and Lange-Nielsen-syndrome (JLNS) with deafness and recurrent episodes of cardiac arrhythmia. The mother and the brother have Romano-Ward syndrome (RWS) with recurrent arrhythmias. Whereas the father has focal epilepsy and genetically verified LQT1, the sister has both focal epilepsy and RWS. Our findings are consistent with the notion that mutations in the KCNQ1 gene can cause epilepsy.