A novel inherited STX1B mutation associated with generalized epilepsy with febrile seizures plus: a family analysis and literature review
10.3760/cma.j.issn.0578-1310.2019.03.010
- VernacularTitle:STX1B基因突变致遗传性癫痫伴热性惊厥附加症一家系分析并文献复习
- Author:
Yang TIAN
1
,
2
;
Chi HOU
;
Xiuying WANG
;
Zhixiao YANG
;
Yanli MA
;
Binbin CAO
;
Xiaojing LI
Author Information
1. 广州市妇女儿童医疗中心神经内科 510000
2. 郑州大学附属儿童医院河南省儿童医院郑州儿童医院神经内科 450018
- Keywords:
Mutation;
Epilepsy;
Seizure,febrile
- From:
Chinese Journal of Pediatrics
2019;57(3):206-210
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical characteristics and treatment of a family with inherited generalized epilepsy with febrile seizures plus (GEFS+) caused by STX1B gene mutation and to review the literature.Methods Clinical data of a child with GEFS+ and his family members who visited Guangzhou Women and Children Medical Center in August 2017 were collected.DNA samples of the proband and his parents,his grandparents were analyzed by the next-generation sequencing and confirmed by Sanger sequencing.A literature search with "STX1B " as the key word was conducted at PubMed,China National Knowledge Infrastructure and Wanfang databases to include recently published studies (up to May 2018).Results The proband was a 2-year-old boy who was admitted to our hospital because of frequent epileptic seizures in a month,with focal seizures evolving into the generalized bilateral tonic-clonic epileptic attacks after febrile seizure.His seizures were well controlled by levetiracetam.His father presented febrile seizure in early childhood stage and epilepsy in adult stage,which were under control with lamotrigine.The proband's grandmother had a history of febrile seizure.Other family members had no history of convulsion.Ictal electroencephalogram showed low voltage fast activities (8-10 Hz) originating from the central region of the brain.Heterozygous mutation of STX1B gene (c.705C＞G,p.Asn235Lys) was detected in the proband,his father and grandmother.The mutation has not been reported previously.Furthermore,no other family members carried the mutation at c.705 locus of STX1B gene.No article in Chinese was found,and 4 articles in a language other than Chinese provided the complete case data of 9 mutation loci in 33 patients (4 families and 4 sporadic cases).With this research data (3 cases in 1 family) included,there were 36 cases and 10 mutation sites in STX1B gene.Of these mutations,there were 5 missense mutations,3 nonsense mutations,1 insert mutation and 1 deletion mutation;and according to the mutation distribution,there were 4 mutation sites in exon 3,2 in exon 8,2 in exon 9,and 1 in exon 1.There was incomplete penetrance in the family,so different types of epileptic attacks occurred among different family members.Conclusions In this study,a de novo mutation of STX1B gene in a family with GEFS+ was defined,which would expand the gene mutation spectrum and provide basis for family genetic counseling.Clinical heterogeneity was found in this family.Seizures caused by STX 1B gene mutation were sensitive to antiepileptic drugs.
