KCNQ3 gene mutation-associated familial cortical myoclonic tremor and epilepsy:A family case report and litera-ture review
10.19845/j.cnki.zfysjjbzz.2024.0141
- VernacularTitle:KCNQ3基因异常相关的家族性皮质肌阵挛性震颤癫痫一家系分析并文献复习
- Author:
Fang WANG
1
;
Bi WANG
;
Xiaoli WANG
Author Information
1. 空军军医大学西京医院神经内科,陕西 西安 710032;西安市第一医院老年神经内科,陕西 西安 710002
- Keywords:
Autosomal dominant inheritance;
Epilepsy;
Tremor;
Electrophysiology;
KCNQ3 gene;
GFAP gene
- From:
Journal of Apoplexy and Nervous Diseases
2024;41(8):735-740
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical,electrophysiological,and genetic characteristics of familial cortical myoclonic tremor and epilepsy(FCMTE),and to review relevant literature for the potential pathogenic genes of the dis-ease.Methods We analyzed the clinical presentations and neuroelectrophysiological and second-generation whole exome gene sequencing results of a patient with FCMTE and her family members.Results The 72-year-old female proband com-plained of paroxysmal tremor of the upper limbs for more than 30 years and convulsions of the upper and lower limbs for 13 years.The somatosensory evoked potential test showed large potentials.Video electroencephalography detected a pattern of sharp waves with fast waves at 7-8 Hz during attacks.She was diagnosed as FCMTE.The symptoms almost disappeared after treatment with sodium valproate.The condition occurred across the three successive generations of the family.Next-generation whole exome sequencing detected a heterozygous mutation each in the exon region of the GFAP gene and KCNQ3 gene.Protein stability analysis found that the two variants had no significant effects on the spatial structures of the proteins encoded by the GFAP gene and KCNQ3 gene.Conclusion FCMTE features an autosomal dominant inheritance pattern,and presents in adulthood with tremor and/or epileptic seizures.KCNQ3 mutations may be implicated in the patho-genesis of this disease.
