Epilepsy in patients with long QT syndrome type 1: A Norwegian family

We present 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. (Source: Epilepsy and Behavior Case Reports)

MedWorm Message: Have you tried our new medical search engine? More powerful than before. Log on with your social media account. 100% free.

from #Head and Neck by Sfakianakis via simeraentaxei on Inoreader https://ift.tt/2IMo99s