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

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...

Full description

Bibliographic Details
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
Format: Article
Language:Russian
Published: IMA-PRESS LLC 2014-06-01
Series:Nevrologiâ, Nejropsihiatriâ, Psihosomatika
Online Access:https://nnp.ima-press.net/nnp/article/view/392

Internet

https://nnp.ima-press.net/nnp/article/view/392

Similar Items