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Epilepsy in de Vivo syndrome: a literature review and a clinical case

https://doi.org/10.17749/2077-8333.2019.11.3.270-277

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Abstract

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.

About the Authors

M. B. Mironov
Federal Center for Cerebrovascular Pathology and Stroke; Medical Center for Pediatric Neurology and Pediatrics
Russian Federation

MD, PhD, Head of the Laboratory of Video-EEG Monitoring,

1-10 Ostrovityanova Str., Moscow 117997;

13/32 Andropov Avenue, Moscow 101100



N. I. Andreeva
Medical Center for Pediatric Neurology and Pediatrics
Russian Federation

MD, Neurologist,

13/32 Andropov Avenue, Moscow 101100



D. S. Fomchenkova
Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
Russian Federation

6th year Medical Student,

1 Ostrovityanova Str., Moscow 117997



N. V. Chebanenko
Russian Medical Academy of Postgraduate Education
Russian Federation

MD, PhD, Head of the Department of General Psychoneurology,

2/1-1 Barrikadnaja Str., Moscow 125993



Yu. V. Rubleva
Federal Center for Cerebrovascular Pathology and Stroke; Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
Russian Federation

MD, PhD, Head of the First Department of Neurology;

Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics,

1-10 Ostrovityanova Str., Moscow 117997



T. M. Krasilshchikova
Pirogov Russian National Research Medical University
Russian Federation

MD, Assistant, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics,

1 Ostrovityanova Str., Moscow 117997



S. G. Burd
Federal Center for Cerebrovascular Pathology and Stroke; Pirogov Russian National Research Medical University
Russian Federation

MD, PhD, Professor at the Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics,

1-10 Ostrovityanova Str., Moscow 117997;

1 Ostrovityanova Str., Moscow 117997



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For citation:


Mironov M.B., Andreeva N.I., Fomchenkova D.S., Chebanenko N.V., Rubleva Y.V., Krasilshchikova T.M., Burd S.G. Epilepsy in de Vivo syndrome: a literature review and a clinical case. Epilepsy and paroxysmal conditions. 2019;11(3):270-277. (In Russ.) https://doi.org/10.17749/2077-8333.2019.11.3.270-277

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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)