Epileptic encephalopathy with movement disorder and arthrogryposis: a case with SCN1A gene variant
10.3760/cma.j.cn113694-20241125-00756
- VernacularTitle:癫痫性脑病伴运动障碍和关节挛缩症： SCN1A基因变异1例
- Author:
Haiqing ZHAO
1
;
Liping ZOU
;
Qian LU
;
Yangyang WANG
;
Shuo DUN
;
Qiuhong WANG
;
Jia WANG
;
Qi ZHANG
Author Information
1. 解放军总医院儿科学部，北京100853
- Publication Type:Journal Article
- Keywords:
Epilepsy;
Infant;
Movement disorders;
Developmental disabilities;
SCN1A gene
- From:
Chinese Journal of Neurology
2025;58(3):299-302
- CountryChina
- Language:Chinese
-
Abstract:
The clinical characteristics of a neonatal patient with movement disorder and arthrogryposis (NDEEMA) caused by gain-of-function mutation of the SCN1A gene were reported in this article. The 1-year-and-9-month-old boy started seizures since 2 hours after birth. He had funnel-breast, dislocation of the hip, and bipedal varus. Genetic testing showed SCN1A gene de novo missense mutation c.706A>G(p.Ile236Val), causing overall gain-of-function effect. The frequency of seizures decreased significantly after treatment of oxcarbazepine.
