A case of neonatal Kleefstra syndrome with SLC2A1 gene mutation
10.3760/cma.j.cn101070-20200208-00127
- VernacularTitle:新生儿Kleefstra综合征并 SLC2A1基因突变1例
- Author:
Zijun YUAN
1
;
Zhaolan CAO
;
Keyu LU
;
Bixia ZHENG
;
Jie QIU
Author Information
1. 南京医科大学附属儿童医院新生儿医疗中心 210008
- Keywords:
Kleefstra syndrome;
EHMT1 gene;
SLC2A1 gene;
Infant, newborn;
Epilepsy
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(13):1027-1029
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation in the Department of Newborn Infants, Children′s Hospital of Nanjing Medical University were retrospectively analyzed.The laboratory examination, genetic characteristics, diagnosis and treatment progress were analyzed.This is the first report of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation, presenting with an early-onset epilepsy.Gene analysis is the most reliable method to make a definitive diagnosis.
