nnpNeurology, Neuropsychiatry, PsychosomaticsНеврология, нейропсихиатрия, психосоматика2074-27112310-1342"IMA-Press", LLC10.14412/2074-2711-2018-1S-62-65nnp-911Research ArticleCLINICAL OBSERVATONSКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕA clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autismКлинический случай SYNGAP1-ассоциированной энцефалопатии у девочки с эпилепсией, задержкой психоречевого развития и аутизмомСавельеваН. Н.SavelievaN. N.

443095, Самара, ул. Ташкентская, 159

443099, Самара, ул. Чапаевская, 89

159, Tashkentskaya St., Samara 443095

89, Chapaevskaya St., Samara 443099

ЯкунинаА. В.YakuninaA. V.

443099, Самара, ул. Чапаевская, 89

89, Chapaevskaya St., Samara 443099

ayakunina@bk.ruПоверенноваИ. Е.PoverennovaI. E.

443099, Самара, ул. Чапаевская, 89

89, Chapaevskaya St., Samara 443099

ГБУЗ «Самарская областная клиническая больница им. В.Д. Середавина» ФГБОУ ВО «Самарский государственный медицинский университет» Минздрава РоссииРоссияV.D. Seredavin Samara Regional Clinical Hospital Samara State Medical University, Ministry of Health of RussiaRussian FederationФГБОУ ВО «Самарский государственный медицинский университет» Минздрава РоссииРоссияSamara State Medical University, Ministry of Health of RussiaRussian Federation201818072018101SСПЕЦВЫПУСК: ЭПИЛЕПСИЯ6265Copyright © Savelieva N.N., Yakunina A.V., Poverennova I.E., 20182018Савельева Н.Н., Якунина А.В., Повереннова И.Е.Savelieva N.N., Yakunina A.V., Poverennova I.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://nnp.ima-press.net/nnp/article/view/911

This paper describes a female patient aged 3 years 6 months with SYNGAP1-associated encephalopathy manifesting with symptomatic epilepsy, intellectual disability, and autism. There were difficulties in  differential diagnosis, since in addition to SYNGAP1 mutation (c2214_2217deltgag), heterozygous BCKDHB gene mutation  (chr6: 80910740G>a, rs3834233) and microduplication of a segment of chromosome 22 were found de novo. The features of the course and  treatment of epilepsy in SYNGAP1 are discussed. A combination of  valproic acid and oxcarbazepine was the most effective treatment for epilepsy.

Приводится описание пациентки 3 лет 6 мес с SYNGAP1-ассоциированной энцефалопатией, проявляющейся симптоматической эпилепсией, задержкой психоречевого развития и аутизмом. Имелись сложности в дифференциальной диагностике, так как кроме мутации SYNGAP1,  с2214_2217delTGAG de novo были выявлены гетерозиготная мутация гена BCKDHB  (chr6:80910740G>A, rs386834233) и микродупликация сегмента 22-й хромосомы. Обсуждаются  особенности течения и терапии эпилепсии при синдроме SYNGAP1. Наиболее эффективным лечением эпилепсии оказалось применение сочетания вальпроевой кислоты и окскарбазепина.

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The authors declare that there are no conflicts of interest present.