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A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders

https://doi.org/10.14412/2074-2711-2014-2-34-40

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Abstract

The practical introduction of the latest genetic techniques could provide the basis for comorbidity of genetic epilepsies and behavioral disorders with cognitive impairments. This article describes a case of SNGAP1 mutation in an 8-year-old female patient having symptomatic epilepsy with epileptic eyelid myoclonia and atypical absences, atypical autism with mental retardation. A detailed clinical discussion deals with neurological and mental states, logopedic characteristics, and psychological examination findings, as well as video-EEG monitoring data.

About the Authors

M.Yu Bobylova
Saint Luke’s Institute of Pediatric Neurology and Epilepsy, Moscow
Russian Federation


M.B. Mironov
Saint Luke’s Institute of Pediatric Neurology and Epilepsy, Moscow
Russian Federation


A.V. Kulikov
Mental Health Research Center, Russian Academy of Sciences, Moscow
Russian Federation


M.V Kazakova

Russian Federation


M.A. Bogacheva
«Otkrytyi Mir» (Open World) Psychological, Medical, and Social Support Center, Moscow
Russian Federation


Yu.A. Tankevich
«Otkrytyi Mir» (Open World) Psychological, Medical, and Social Support Center, Moscow
Russian Federation


L.Yu. Glukhova
Saint Luke’s Institute of Pediatric Neurology and Epilepsy, Moscow
Russian Federation


E.I Barletova
Saint Luke’s Institute of Pediatric Neurology and Epilepsy, Moscow
Russian Federation


M.O. Abramov
Saint Luke’s Institute of Pediatric Neurology and Epilepsy, Moscow
Russian Federation


K.Yu. Mukhin
Saint Luke’s Institute of Pediatric Neurology and Epilepsy, Moscow
Russian Federation


G.E. Rudenskaya
Medical Genetics Research Center, Russian Academy of Sciences, Moscow
Russian Federation


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For citation:


Bobylova M., Mironov M., Kulikov A., Kazakova M., Bogacheva M., Tankevich Yu., Glukhova L., Barletova E., Abramov M., Mukhin K., Rudenskaya G. A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders. Neurology, Neuropsychiatry, Psychosomatics. 2014;6(2):34-40. (In Russ.) https://doi.org/10.14412/2074-2711-2014-2-34-40

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ISSN 2074-2711 (Print)
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