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

Article Russian OPEN
M. Yu. Bobylova; M. B. Mironov; M. O. Abramov; A. V. Kulikov; M. V. Kazakova; L. Yu. Glukhova; E. I. Barletova; K. Yu. Mukhin;
(2015)
  • Publisher: ABV-press
  • Journal: Russkij Žurnal Detskoj Nevrologii (issn: 2073-8803, eissn: 2412-9178)
  • Related identifiers: doi: 10.17650/2073-8803-2015-10-3-48-54
  • Subject: epileptic encephalopathy | autism | dystonia | ataxia | genome sequencing | video-electroencephalographic monitoring | Neurology. Diseases of the nervous system | RC346-429

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)... View more
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