Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review
Abstract Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset and drug-refractory seizures. We repor...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-02-01
|
| Series: | Acta Epileptologica |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s42494-022-00114-z |
| _version_ | 1797863278423048192 |
|---|---|
| author | Xingying Zeng Yong Chen Xiongying Yu Yuanyuan Che Hui Chen Zhaoshi Yi Jie Qin Jianmin Zhong |
| author_facet | Xingying Zeng Yong Chen Xiongying Yu Yuanyuan Che Hui Chen Zhaoshi Yi Jie Qin Jianmin Zhong |
| author_sort | Xingying Zeng |
| collection | DOAJ |
| description | Abstract Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset and drug-refractory seizures. We report two children with global developmental delay and epileptic encephalopathy, which are caused by SYNGAP1 gene novel mutations, and drug treatment is effective. Case presentation We report a boy and a girl presented with global developmental delay when they were young babies; as they grew up, cognitive impairment and social-communication disorder became more and more prominent; unfortunately, the patients developed into various seizure types, including eyelid myoclonia, myoclonic and absences when the boy was 1 year 8 mouths old and the girl was 3 years old. The two patients were found two previously unknown mutations by high throughput sequencing [c.3271_ c.3272insT; (p.L1091L fs*62), c.2515A > T (p.K839*)] in exon 15 of the SYNGAP in the proband. Sanger sequencing confirmed the heterozygous nature, and neither of their parents carried the same mutation. The girl treated with valproic acid and prednisone became seizure-free, and valproic acid and levetiracetam combined with clonazepam were influential in the other. Conclusions The global developmental delay and epileptic encephalopathy of the children were probably due to the pathogenic mutation of the SYNGAP1 gene, and prednisone and clonazepam may be effective in achieving seizure-free. |
| first_indexed | 2024-04-09T22:33:00Z |
| format | Article |
| id | doaj.art-8d90dc4ce1194d3aa8b2c6d111d3a7ed |
| institution | Directory Open Access Journal |
| issn | 2524-4434 |
| language | English |
| last_indexed | 2024-04-09T22:33:00Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Acta Epileptologica |
| spelling | doaj.art-8d90dc4ce1194d3aa8b2c6d111d3a7ed2023-03-22T12:40:07ZengBMCActa Epileptologica2524-44342023-02-01511810.1186/s42494-022-00114-zNovel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature reviewXingying Zeng0Yong Chen1Xiongying Yu2Yuanyuan Che3Hui Chen4Zhaoshi Yi5Jie Qin6Jianmin Zhong7Molecular Diagnostic Laboratory, Children’s Hospital of Jiangxi ProvinceDepartment of Neurology, Children’s Hospital of Jiangxi ProvinceDepartment of Neurology, Children’s Hospital of Jiangxi ProvinceDepartment of Neurology, Children’s Hospital of Jiangxi ProvinceDepartment of Neurology, Children’s Hospital of Jiangxi ProvinceMolecular Diagnostic Laboratory, Children’s Hospital of Jiangxi ProvinceDepartment of Neurology, Children’s Hospital of Jiangxi ProvinceDepartment of Neurology, Children’s Hospital of Jiangxi ProvinceAbstract Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset and drug-refractory seizures. We report two children with global developmental delay and epileptic encephalopathy, which are caused by SYNGAP1 gene novel mutations, and drug treatment is effective. Case presentation We report a boy and a girl presented with global developmental delay when they were young babies; as they grew up, cognitive impairment and social-communication disorder became more and more prominent; unfortunately, the patients developed into various seizure types, including eyelid myoclonia, myoclonic and absences when the boy was 1 year 8 mouths old and the girl was 3 years old. The two patients were found two previously unknown mutations by high throughput sequencing [c.3271_ c.3272insT; (p.L1091L fs*62), c.2515A > T (p.K839*)] in exon 15 of the SYNGAP in the proband. Sanger sequencing confirmed the heterozygous nature, and neither of their parents carried the same mutation. The girl treated with valproic acid and prednisone became seizure-free, and valproic acid and levetiracetam combined with clonazepam were influential in the other. Conclusions The global developmental delay and epileptic encephalopathy of the children were probably due to the pathogenic mutation of the SYNGAP1 gene, and prednisone and clonazepam may be effective in achieving seizure-free.https://doi.org/10.1186/s42494-022-00114-zSYNGAP1EpilepsyPrednisoneClonazepamCase report |
| spellingShingle | Xingying Zeng Yong Chen Xiongying Yu Yuanyuan Che Hui Chen Zhaoshi Yi Jie Qin Jianmin Zhong Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review Acta Epileptologica SYNGAP1 Epilepsy Prednisone Clonazepam Case report |
| title | Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review |
| title_full | Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review |
| title_fullStr | Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review |
| title_full_unstemmed | Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review |
| title_short | Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review |
| title_sort | novel variants of syngap1 associated epileptic encephalopathy two cases report and literature review |
| topic | SYNGAP1 Epilepsy Prednisone Clonazepam Case report |
| url | https://doi.org/10.1186/s42494-022-00114-z |
| work_keys_str_mv | AT xingyingzeng novelvariantsofsyngap1associatedepilepticencephalopathytwocasesreportandliteraturereview AT yongchen novelvariantsofsyngap1associatedepilepticencephalopathytwocasesreportandliteraturereview AT xiongyingyu novelvariantsofsyngap1associatedepilepticencephalopathytwocasesreportandliteraturereview AT yuanyuanche novelvariantsofsyngap1associatedepilepticencephalopathytwocasesreportandliteraturereview AT huichen novelvariantsofsyngap1associatedepilepticencephalopathytwocasesreportandliteraturereview AT zhaoshiyi novelvariantsofsyngap1associatedepilepticencephalopathytwocasesreportandliteraturereview AT jieqin novelvariantsofsyngap1associatedepilepticencephalopathytwocasesreportandliteraturereview AT jianminzhong novelvariantsofsyngap1associatedepilepticencephalopathytwocasesreportandliteraturereview |