A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders
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 e...
Main Authors: | M.Yu Bobylova, M.B. Mironov, A.V. Kulikov, M.V Kazakova, M.A. Bogacheva, Yu.A. Tankevich, L.Yu. Glukhova, E.I Barletova, M.O. Abramov, K.Yu. Mukhin, G.E. Rudenskaya |
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Format: | Article |
Language: | Russian |
Published: |
IMA-PRESS LLC
2014-06-01
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Series: | Nevrologiâ, Nejropsihiatriâ, Psihosomatika |
Online Access: | https://nnp.ima-press.net/nnp/article/view/392 |
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