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A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism

https://doi.org/10.14412/2074-2711-2018-1S-62-65

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Abstract

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.

About the Authors

N. N. Savelieva
V.D. Seredavin Samara Regional Clinical Hospital Samara State Medical University, Ministry of Health of Russia
Russian Federation

159, Tashkentskaya St., Samara 443095

89, Chapaevskaya St., Samara 443099



A. V. Yakunina
Samara State Medical University, Ministry of Health of Russia
Russian Federation
89, Chapaevskaya St., Samara 443099


I. E. Poverennova
Samara State Medical University, Ministry of Health of Russia
Russian Federation
89, Chapaevskaya St., Samara 443099


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For citation:


Savelieva N.N., Yakunina A.V., Poverennova I.E. A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism. Neurology, Neuropsychiatry, Psychosomatics. 2018;10(1S):62-65. (In Russ.) https://doi.org/10.14412/2074-2711-2018-1S-62-65

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ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)