EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS)

M. Yu. Bobylova; Бобылова М. Ю.; K. Yu. Mukhin; Мухин К. Ю.; I. V. Ivanova; Иванова И. В.; I. V. Nekrasova; Некрасова И. В.; O. A. Pylaeva; Пылаева О. А.; N. Yu. Borovikova; Боровикова Н. Ю.; E. S. Il’ina; Ильина Е. С.

doi:10.17650/2073-8803-2016-11-1-23-28

EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS)

Authors: Bobylova M.Y.¹, Mukhin K.Y.¹, Ivanova I.V.¹^,2, Nekrasova I.V.², Pylaeva O.A.¹, Borovikova N.Y.¹, Il’ina E.S.²
Affiliations:
1. Svt. Luka’s Institute of Child Neurology and Epilepsy
2. Russian Children’s Clinical Hospital, Ministry of Health of Russia
Issue: Vol 11, No 1 (2016)
Pages: 23-28
Section: AUTHENTIC ARTICLES
Published: 26.04.2016
URL: https://rjdn.abvpress.ru/jour/article/view/136
DOI: https://doi.org/10.17650/2073-8803-2016-11-1-23-28
ID: 136

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Abstract

Examinations were made in 11 female patients aged 3 to 23 years with Rett syndrome and typical mutation in the MECP2 gene, who had been followed up from 2006 to 2015. The investigators evaluated neurological and psychic status (systematically) and performed continuous video electroencephalographic (EEG) monitoring (if clinically indicated), magnetic resonance imaging, and molecular cytogenetic examination. Epilepsy was diagnosed in 6 (54.5 %) patients: symptomatic focal epilepsy in 5 cases and symptomatic generalized epilepsy in 1. The mean age at epilepsy onset was 3 years and 9 months. Generalized epileptic seizures were noted in 60 % of cases and focal ones in 40 %. EEG changes were revealed in 9 patients, 5 with slowing of background activity, 2 with regional epileptiform activity, and 1 with diffuse epileptiform activity that corresponded to that of the benign epileptiform patterns of childhood. Five patients were recorded to have multiregional epileptiform activity.

Keywords

hereditary diseases in children, Rett syndrome, MECP2 gene, epilepsy, epileptic seizure, video electroencephalographic monitoring, diagnosis, treatment, prognosis

About the authors

M. Yu. Bobylova

Svt. Luka’s Institute of Child Neurology and Epilepsy

Author for correspondence.
Email: mariya_bobylova@mail.ru
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396 Russian Federation

K. Yu. Mukhin

Svt. Luka’s Institute of Child Neurology and Epilepsy

Email: fake@neicon.ru
6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396 Russian Federation

I. V. Ivanova

Svt. Luka’s Institute of Child Neurology and Epilepsy;
Russian Children’s Clinical Hospital, Ministry of Health of Russia

Email: fake@neicon.ru

6 Svetlaya St., Puchkovo Village, Pervomayskoe Settlement, Moscow, 143396;

117 Leninskiy Prospekt, Moscow, 117997

Russian Federation

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