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23 results on '"Daubail, Benoît"'

7. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Author

Thomas, Quentin, Vitobello, Antonio, Mau-Them, Frédéric Tran, Duffourd, Yannis, Fromont, Agnès, Giroud, Maurice, Daubail, Benoit, Jacquin-Piques, Agnès, Hervieu-Begue, Marie, Moreau, Thibault, Osseby, Guy-Victor, Garret, Philippine, Nambot, Sophie, Delanne, Julian, Bruel, Ange-Line, Sorlin, Arthur, Callier, Patrick, Denomme-Pichon, Anne-Sophie, Faivre, Laurence, Béjot, Yannick, Philippe, Christophe, Thauvin-Robinet, Christelle, and Moutton, Sébastien

Published
2021
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16. Si j’avais un accident vasculaire cérébral aigu en 2015

Author

Daubail, Benoît, primary, Tissier, Cindy, additional, Legris, Nicolas, additional, Hervieu-Begue, Marie, additional, Ricolfi, Frédéric, additional, Honnart, Didier, additional, Giroud, Maurice, additional, Bejot, Yannick, additional, and Freysz, Marc, additional

Published
2015
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17. Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood

Author

Giroud, Marie, primary, Daubail, Benoît, additional, Khayat, Norbert, additional, Chouchane, Mondher, additional, Berger, Eric, additional, Muzard, Emelyne, additional, Medeiros de Bustos, Elisabeth, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, Masurel, Alice, additional, Darmency-Stamboul, Véronique, additional, Huet, Frédéric, additional, Béjot, Yannick, additional, Giroud, Maurice, additional, and Moulin, Thierry, additional

Published
2014
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22. Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood.

Author

Giroud, Marie, Daubail, Benoît, Khayat, Norbert, Chouchane, Mondher, Berger, Eric, Muzard, Emelyne, Medeiros de Bustos, Elisabeth, Thauvin-Robinet, Christel, Faivre, Laurence, Masurel, alice, Darmency-Stamboul, Véronique, Huet, Frédéric, Béjot, Yannick, Giroud, Maurice, and Moulin, Thierry

Subjects
*ANGELMAN syndrome, *RETROSPECTIVE studies, *ANESTHESIA in neurology, *AGE factors in electroencephalography, *CEREBELLAR ataxia
Abstract

Background: This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the ubiquitin-protein-ligase E3A gene on maternal chromosome 15. Summary: A retrospective analysis of data from six adults patients with clinical, electroencephalographic and genetic confirmation of AS was performed. Movement disorders of the hands and mouth, laughing spells, severe expressive speech disorders, a happy nature, hyposomnia and anxiety are the major neurological characteristics of AS in adulthood. Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood. Epilepsy, one of the most frequent symptoms in childhood and in adulthood, is characterised by specific electroencephalographic patterns. Key Messages: These clinical characteristics are important to improve the clinical awareness and genetic diagnosis of AS. Clinicians must be better informed concerning the adult phenotype as it is not well described in the literature. We stress the importance of AS as one of the main causes of intractable epilepsy. The authors suggest frontal and cerebellar dysfunction. Further functional cerebral imaging studies are necessary. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2015
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23. [If I had a stroke in 2015].

Author

Daubail B, Tissier C, Legris N, Hervieu-Begue M, Ricolfi F, Honnart D, Giroud M, Bejot Y, and Freysz M

Subjects
Adult, Aged, Aged, 80 and over, Emergencies, Emergency Medical Services organization & administration, History, 21st Century, Hospitalization, Humans, Middle Aged, Stroke epidemiology, Thrombolytic Therapy standards, Thrombolytic Therapy trends, Stroke therapy
Abstract

The management of stroke is now recognized as a real medical emergency as well as myocardial infarct, because we have now an efficacious treatment in cerebral infarct, intravenous fibrinolysis that decreases the risk of death and motor and cognitive handicap. The second characteristic is its very important frequency, and its risk that increases in young people. This medical emergency enforces the care systems because it needs a speedy network for the patient, his family and the care professionals, useful for intravenous fibrinolysis before 3 hours after 80 years and before 4 hours and a half before 80 years. It is necessary to start treatment as soon as possible because it is most effective when given early. The consequences to avoid the lost of chance, need several actions: inform the public about the interest of FAST score to identify the first signs (facial palsy, palsy of arm, aphasia and time of stroke onset); call 15; translate the patient towards an appropriate medical center; use tele-stroke when the hospital has no neurologist; and manage the patient in a stroke unit, to introduce in a second time secondary prevention thanks to therapeutical education. Therefore, stroke care is a real multiprofessional emergency around the neurologist., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Published
2015
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