Article

Case report: CADASIL with cysteine-sparing P572L mutation on exon 11 presenting as focal onset epilepsy

2023-11-25

Abstract excerpt

<h4>Background: </h4> Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease. It is caused by a NOTCH3 mutation and usually involves changes in cysteine residues. The clinical manifestations of CADASIL with cysteine-sparing mutations and seizures require further clarification because of the limited number of c...

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Literature Corpus work: 640152b0-f7d2-50ff-8e7b-569b6bb1c315
DOI: 10.21203/rs.3.rs-3646797/v1

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Case report: CADASIL with cysteine-sparing P572L mutation on exon 11 presenting as focal onset epilepsyDOI 10.21203/rs.3.rs-3646797/v1Read

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