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2 results on '"Uribe Roca C"'

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

Author

González F, Bala M, Saucedo M, Bandeo L, Pacio G, Chertcoff A, De Francesco L, León Cejas L, Pacha MS, Uribe Roca C, Martínez O, Fernández Pardal M, Reisin R, and Bonardo P

Subjects
Humans, Cerebral Infarction, Magnetic Resonance Imaging, Receptor, Notch3 genetics, CADASIL complications, CADASIL diagnosis, CADASIL genetics, Leukoencephalopathies, Status Epilepticus etiology
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., (Copyright © 2020 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

Published
2023
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2. Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Author

González F, Bala M, Saucedo M, Bandeo L, Pacio G, Chertcoff A, De Francesco L, León Cejas L, Pacha MS, Uribe Roca C, Martínez O, Fernández Pardal M, Reisin R, and Bonardo P

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., (Copyright © 2020 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Published
2020
Full Text
View/download PDF

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