A Case of CADASIL with NOTCH3 Gene Mutation Presenting with Focal Epileptic Seizure: A Case of CADASIL Presenting with Focal Epileptic Seizure
Archives of Epilepsy, cilt.29, sa.1, ss.34-36, 2023 (ESCI, Scopus)
- 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
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- 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.