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5 results on '"Uribe Roca C"'

2. Status epilepticusno convulsivo como manifestación inicial en una familia con arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía (CADASIL)

Author

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

Abstract

La arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía es una enfermedad autosómica dominante de pequeños vasos causada por mutaciones del gen NOTCH3. Típicamente se presenta con migraña, eventos isquémicos cerebrales recurrentes y trastornos cognitivos. Las crisis epilépticas son inusuales como manifestación inicial, pero aún más infrecuente es su presentación como status epilepticusno convulsivo1. Se presenta una serie familiar de 3casos con esta arteriopatía, entre los cuales 2de ellos tuvieron status epilepticuscomo manifestación de la enfermedad.

Published
2023
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3. Status epilepticus no convulsivo como manifestación inicial en una familia con arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía (CADASIL)

Author

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

Published
2020
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4. 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
Full Text
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5. 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
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