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

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Uncu G., İLHAN ALGIN D., ERDİNÇ O. O., Özbabalık Adapınar D.

Archives of Epilepsy, vol.29, no.1, pp.34-36, 2023 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 1
  • Publication Date: 2023
  • Doi Number: 10.4274/archepilepsy.2023.22025
  • Journal Name: Archives of Epilepsy
  • Journal Indexes: Scopus
  • Page Numbers: pp.34-36
  • Keywords: CADASIL, focal epileptic seizure, NOTCH3 gene
  • Eskisehir Osmangazi University Affiliated: Yes

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.