A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS

A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS

The introduction of the latest genetic techniques into practice could discover a basis for the comorbidity of genetic epilepsies and behavioral disturbances with cognitive impairments. Some chromosomal syndromes are characterized by a specific electroencephalogram (EEG) pattern, the type of seizures...

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Bibliographic Details
Main Authors: M. Yu. Bobylova, M. B. Mironov, M. O. Abramov, A. V. Kulikov, M. V. Kazakova, L. Yu. Glukhova, E. I. Barletova, K. Yu. Mukhin
Format: Article
Language:Russian
Published: ABV-press 2015-11-01
Series:Russkij Žurnal Detskoj Nevrologii
Subjects:
epileptic encephalopathy
autism
dystonia
ataxia
genome sequencing
video-electroencephalographic monitoring
Online Access:https://rjdn.abvpress.ru/jour/article/view/109

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https://rjdn.abvpress.ru/jour/article/view/109

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