Voltage-gated sodium channel α2-subunit gene related epilepsy with autism spectrum disorder: a case report
10.3760/cma.j.cn113694-20210207-00101
- VernacularTitle:电压依赖性钠通道α2亚基基因相关癫痫伴孤独症谱系障碍一例
- Author:
Xin LI
1
;
Jingjie LI
;
Yakun DU
;
Suzhen SUN
Author Information
1. 河北省儿童医院神经内一科，石家庄050031
- Keywords:
Epilepsy;
Autistic disorder;
Sodium channels;
Child;
SCN2A gene
- From:
Chinese Journal of Neurology
2021;54(10):1041-1046
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical features and treatment of voltage-gated sodium channel α2-subunit (SCN2A) gene-related epilepsy.Methods:The clinical manifestion, video electroencephalography, head magnetic resonance imaging of a child diagnosed with epilepsy in Hebei Children′s Hospital were analyzed. Additionally, blood samples of the family were tested for the whole exome sequencing.Results:The boy aged 20 months,had been developed backward since childhood and accompanied by autism spectrum disorder manifestations. Seizures occurred at 19 months, manifested as isolated and clusters of spasms or generalized tonic seizures. The whole exome sequencing of the family revealed that the proband had c.4543C>T heterozygous mutation in the SCN2A gene, and both parents showed wild type. The effect of multiple anti-epileptic drugs on the children was not good, but the epilepsy was controlled after the final addition of perampane.Conclusions:The c.4543C>T heterozygous variant of SCN2A gene is the cause of disease in this child. This variant can cause epilepsy with autism spectrum disorder. The location and type of SCN2A mutations are strongly related with phenotypes, and a clear genetic etiology contributes to accurate treatment of children.
