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.
Highlights
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
Клиническая картина эпилепсии у пациентов с эпилептической энцефалопатией, тяжелой умственной отсталостью и расстройством аутистического спектра включала: в одном случае атипичные абсансы в сочетании с атоническими, диалептическими и миоклоническими приступами, в другом – абсансы в сочетании с миоклониями, в третьем – полиморфные приступы с дебютом на 1-м году жизни
Summary
Бобылова М.Ю.1, Миронов М.Б.1, Куликов А.В.2, Казакова М.В.2, Богачева М.А.3, Танкевич Ю.А.3, Глухова Л.Ю.1, Барлетова Е.И.1, Абрамов М.О.1, Мухин К.Ю.1, Руденская Г.Е.4. A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders Bobylova M.Yu., Mironov M.B.1, Kulikov A.V.2, Kazakova M.V.2, Bogacheva M.A.3, Tankevich Yu.A.3, Glukhova L.Yu., Barletova E.I.1, Abramov M.O.1, Mukhin K.Yu., Rudenskaya G.E.4 1Saint Luke’s Institute of Pediatric Neurology and Epilepsy, Moscow, Russia; 2Mental Health Research Center, Russian Academy of Sciences, Moscow, Russia; 3 «Otkrytyi Mir» (Open World) Psychological, Medical, and Social Support Center, Moscow, Russia; 4Medical Genetics Research Center, Russian Academy of Sciences, Moscow, Russia; 113, Borisovskie Prudy, Build. Reference: Bobylova M.Yu., Mironov M.B., Kulikov A.V., Kazakova M.V., Bogacheva M.A., Tankevich Yu.A., Glukhova L.Yu., Barletova E.I., Abramov M.O., Mukhin K.Yu., Rudenskaya G.E. A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders. Клиническая картина данных синдромов, помимо возможности развития эпилепсии, включает различную степень интеллектуального дефицита, симптомы аутизма, двигательные нарушения
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