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
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
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
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
Russian Federation
89, Chapaevskaya St., Samara 443099
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Review
For citations:
Savelieva NN, Yakunina AV, Poverennova IE. A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism. Nevrologiya, neiropsikhiatriya, psikhosomatika = 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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