A Case of CADASIL with NOTCH3 Gene Mutation Presenting with Focal Epileptic Seizure: A Case of CADASIL Presenting with Focal Epileptic Seizure

Abstract

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary disease of cerebral microvessels with autosomal dominant inheritance due to the NOTCH3 gene mutation. Epileptic seizures were observed in 5-11% of CADASIL cases. Observation of seizures as an initial clinical observation is a rare condition in patients with CADASIL patients. In this report, we present a patient with temporal lobe seizure, whose condition was diagnosed through gene analysis as CADASIL.