CADASIL type 1 with cysteine-sparing P572L mutation on exon 11 presenting as focal onset epilepsy: a case report
Abstract Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small-vessel disease, typically with adult-onset. It is most often caused by NOTCH3 mutations that involve cysteine residues. Cases of CADAS...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
SpringerOpen
2026-06-01
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| Edice: | Egyptian Journal of Medical Human Genetics |
| Témata: | |
| On-line přístup: | https://doi.org/10.1186/s43042-026-00890-0 |
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