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

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.

Keywords

• epileptic encephalopathy
• syngap1 mutations
• exome sequencing