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非惊厥性癫痫持续状态作为伴皮质下梗死和白质脑病的常染色体显性脑动脉病(CADASIL)一家系的首发表现

Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

机构信息

Servicio de Neurología, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.

Servicio de Neurología, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.

出版信息

Neurologia (Engl Ed). 2023 Mar;38(2):82-86. doi: 10.1016/j.nrleng.2020.04.031. Epub 2022 Nov 17.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.

摘要

伴有皮质下梗死和白质脑病的脑常染色体显性血管病(CADASIL)是一种常染色体显性小血管疾病,由 NOTCH3 基因突变引起。它通常表现为偏头痛、反复发作的脑缺血和认知障碍。癫痫发作很少作为首发表现,非惊厥性癫痫持续状态更为罕见。我们报告了 3 例具有这种血管病的相关患者,其中 2 例表现为癫痫持续状态。

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