CADASIL presenting with focal and generalised epilepsy due to a novel NOTCH3 mutation

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small vessel disease caused by mutations of the NOTCH3 gene [1]. Clinical manifestations of CADASIL include headaches, recurrent ischaemic strokes, and progressive cognitive decline. Seizures are an uncommon symptom and were previously reported as occurring late in the disease course, after onset of stroke [1]. We report a CADASIL family with epilepsy as an early symptom due to a novel NOTCH3 mutation.