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

M. B. Mironov, N. I. Andreeva, D. S. Fomchenkova, N. V. Chebanenko, Yu. V. Rubleva, T. M. Krasilshchikova, S. G. Burd
2019 Epilepsia and paroxyzmal conditions  
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
more » ... 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.
doi:10.17749/2077-8333.2019.11.3.270-277 fatcat:jzhvn4l6lfctth4pj353ix3ypu