Epilepsy in de Vivo syndrome: a literature review and a clinical case
GLUT 1 transporter deficiency syndrome (De Vivo syndrome, GLUT 1 deficiency syndrome, De Vivo Disease) is a rare genetic disease associated with a deficiency of the glucose transporter GLUT 1. Due to this deficiency, diffusion of glucose through the blood-brain barrier is limited or completely block...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
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IRBIS LLC
2019-10-01
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| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/488 |
| _version_ | 1797879368164311040 |
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| author | M. B. Mironov N. I. Andreeva D. S. Fomchenkova N. V. Chebanenko Yu. V. Rubleva T. M. Krasilshchikova S. G. Burd |
| author_facet | M. B. Mironov N. I. Andreeva D. S. Fomchenkova N. V. Chebanenko Yu. V. Rubleva T. M. Krasilshchikova S. G. Burd |
| author_sort | M. B. Mironov |
| collection | DOAJ |
| description | GLUT 1 transporter deficiency syndrome (De Vivo syndrome, GLUT 1 deficiency syndrome, De Vivo Disease) is a rare genetic disease associated with a deficiency of the glucose transporter GLUT 1. Due to this deficiency, diffusion of glucose through the blood-brain barrier is limited or completely blocked. As a result, a clinical symptom complex of neurological disorders – epileptic seizures, cognitive deficit, and motor disorders – develops. The article provides a review of the literature on the variety of epilepsy manifestations in this syndrome, including idiopathic generalized epilepsy with absences, myoclonic-astatic epilepsy, and focal epilepsy. The inability of the basic antiepileptic therapy to stop the seizures is noted. The main treatment method is the ketogenic diet. A clinical observation made by these authors is also presented. |
| first_indexed | 2024-04-10T02:47:38Z |
| format | Article |
| id | doaj.art-49acfb8e23bc4eda923a339a0a9938af |
| institution | Directory Open Access Journal |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| last_indexed | 2024-04-10T02:47:38Z |
| publishDate | 2019-10-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj.art-49acfb8e23bc4eda923a339a0a9938af2023-03-13T07:44:17ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882019-10-0111327027710.17749/2077-8333.2019.11.3.270-277456Epilepsy in de Vivo syndrome: a literature review and a clinical caseM. B. Mironov0N. I. Andreeva1D. S. Fomchenkova2N. V. Chebanenko3Yu. V. Rubleva4T. M. Krasilshchikova5S. G. Burd6Federal Center for Cerebrovascular Pathology and Stroke; Medical Center for Pediatric Neurology and PediatricsMedical Center for Pediatric Neurology and PediatricsPirogov Russian National Research Medical University, Ministry of Health of the Russian FederationRussian Medical Academy of Postgraduate EducationFederal Center for Cerebrovascular Pathology and Stroke; Pirogov Russian National Research Medical University, Ministry of Health of the Russian FederationPirogov Russian National Research Medical UniversityFederal Center for Cerebrovascular Pathology and Stroke; Pirogov Russian National Research Medical UniversityGLUT 1 transporter deficiency syndrome (De Vivo syndrome, GLUT 1 deficiency syndrome, De Vivo Disease) is a rare genetic disease associated with a deficiency of the glucose transporter GLUT 1. Due to this deficiency, diffusion of glucose through the blood-brain barrier is limited or completely blocked. As a result, a clinical symptom complex of neurological disorders – epileptic seizures, cognitive deficit, and motor disorders – develops. The article provides a review of the literature on the variety of epilepsy manifestations in this syndrome, including idiopathic generalized epilepsy with absences, myoclonic-astatic epilepsy, and focal epilepsy. The inability of the basic antiepileptic therapy to stop the seizures is noted. The main treatment method is the ketogenic diet. A clinical observation made by these authors is also presented.https://www.epilepsia.su/jour/article/view/488de vivo syndromeepilepsyanti-epileptic therapyketogenic dietvideo-eeg monitoring |
| spellingShingle | M. B. Mironov N. I. Andreeva D. S. Fomchenkova N. V. Chebanenko Yu. V. Rubleva T. M. Krasilshchikova S. G. Burd Epilepsy in de Vivo syndrome: a literature review and a clinical case Эпилепсия и пароксизмальные состояния de vivo syndrome epilepsy anti-epileptic therapy ketogenic diet video-eeg monitoring |
| title | Epilepsy in de Vivo syndrome: a literature review and a clinical case |
| title_full | Epilepsy in de Vivo syndrome: a literature review and a clinical case |
| title_fullStr | Epilepsy in de Vivo syndrome: a literature review and a clinical case |
| title_full_unstemmed | Epilepsy in de Vivo syndrome: a literature review and a clinical case |
| title_short | Epilepsy in de Vivo syndrome: a literature review and a clinical case |
| title_sort | epilepsy in de vivo syndrome a literature review and a clinical case |
| topic | de vivo syndrome epilepsy anti-epileptic therapy ketogenic diet video-eeg monitoring |
| url | https://www.epilepsia.su/jour/article/view/488 |
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