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, cilt.29, sa.1, ss.34-36, 2023 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.4274/archepilepsy.2023.22025
  • Dergi Adı: Archives of Epilepsy
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.34-36
  • Anahtar Kelimeler: CADASIL, focal epileptic seizure, NOTCH3 gene
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.