Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene
10.3760/cma.j.cn511374-20221102-00752
- VernacularTitle:SCN1A基因变异致遗传性癫痫伴热性惊厥附加症3个家系的临床及遗传学分析
- Author:
Zhigang YANG
1
;
Yuan WANG
;
Guohong CHEN
;
Lifang SONG
;
Yanli MA
;
Weihua ZHANG
Author Information
1. 郑州大学附属儿童医院神经内科，郑州 450066
- Keywords:
Epilepsy;
Genetic epilepsy with febrile seizures plus;
SCN1A gene;
Genetic variant
- From:
Chinese Journal of Medical Genetics
2024;41(3):284-288
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus (GEFS+ ).Methods:Three GEFS+ probands and their pedigree members presented at the Children′s Hospital of Zhengzhou University from January 2020 to December 2021 were selected as the study subjects. Clinical data of the pedigrees were collected. Whole exome sequencing was carried out for the probands, and Sanger sequencing was used to verify the candidate variants.Results:Proband 1 was a 3-year-and-2-month-old male with febrile seizure plus. His father, two aunts, grandmother, aunt grandmother, uncle grandfather, and paternal great-grandmother also had onset of febrile seizures at 1 ~ 2 years of age with remission before 6 years old. Proband 2 was a 1-year-and-4-month-old male with complex febrile seizure. His mother, maternal uncle, and maternal grandmother also had febrile seizures before 5 ~ 6 years of age. Proband 3 was a 3-year-and-11-month-old male with febrile seizure plus. His father and grandfather also had febrile seizures plus with remission at 7 ~ 8 years of age. Genetic testing revealed that proband 1 had harbored a paternally derived heterozygous SCN1A: c. 1613T>C variant, proband 2 had harbored a maternally derived heterozygous SCN1A: c. 2804A>G variant, and proband 3 had harbored a paternally derived heterozygous SCN1A: c. 1271T>C variant. All of the three variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (PM1+ PM2_Supporting+ PP1+ PP3+ PP4). Conclusion:The c. 1613T>C, c. 2804A>G and c. 1271T>C variants probably underlay the pathogenesis of GEFS+ in these pedigrees.
