Abstract
In patients with Long QT Syndrome (LQTS), mutations in the potassium channel KCNH2 gene increase seizure susceptibility with missense mutations involving the pore region of the gene acting as a positive predictor of seizures. Seizures are less commonly reported in patients with carboxyl (C′)-terminus mutations. This case report describes a young man who presented with syncope followed by a first seizure and was found to have LQTS caused by a pathogenic carboxyl-terminus deletion/frameshifting mutation of the KCNH2 gene. He later had a second seizure after anti-seizure medication taper. This mutation has not previously been reported associated with seizures. Our case suggests that, in patients with this type of C′-terminus mutation and a first seizure or syncope, there is a susceptibility to epilepsy. As inherited congenital heart disease may be a risk factor for sudden unexpected death in epilepsy (SUDEP), attention to all specific genetic markers in a young patient with QT prolongation and a first seizure could guide the use of anti-seizure medication to reduce the risk of SUDEP.
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