Clinical characteristics and genetic analysis of autosomal dominant lateral temporal lobe epilepsy caused by MICAL1 gene variation
10.3760/cma.j.cn113694-20240604-00384
- VernacularTitle:MICAL1基因变异所致常染色体显性遗传性颞叶外侧癫痫的临床特征及遗传学分析
- Author:
Daoqi MEI
1
;
Ang MA
;
Bingbing ZHANG
;
Xiaoyan SHI
;
Manli WANG
;
Liya ZHANG
;
Jihong TANG
Author Information
1. 苏州大学附属儿童医院神经内科，苏州 215025
- Publication Type:Journal Article
- Keywords:
Epilepsy, temporal lobe;
MICAL1 gene;
Autosomal dominant;
Hearing disorders;
Whole exon gene sequencing
- From:
Chinese Journal of Neurology
2025;58(3):292-298
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and genetic variation characteristics of a child with autosomal dominant lateral temporal lobe epilepsy caused by de novo variation of the MICAL1 gene. Methods:Clinical data of the patient with autosomal dominant lateral temporal lobe epilepsy caused by MICAL1 gene variation diagnosed in Children′s Hospital of Soochow University in August 2019 were collected. The whole exome sequencing was performed on the core members of the family, and the characteristics of gene variations were analyzed. Results:The proband, a 10 years and 5 months old boy, was admitted to the hospital because of "intermittent convulsions for 7 years". The clinical manifestations included focal or generalized tonic-clonic seizures and hearing aura, with normal language and intellectual development. No abnormalities were found in the T 1 and fluid attenuated inversion recovery sequences of the cranial 3.0 T magnetic resonance imaging and 3D thin-slice magnetic resonance imaging.Long-range video electroencephalogram showed the distribution of spinous and slow spinous waves in the left frontal and temporal areas. The results of whole exome gene sequencing in the core family members showed heterozygous de novo missense variation in the MICAL1 gene of the proband (NM_022765): c.763G>T(exon6)(p.Val255Leu) that had not been reported. According to American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines (2015), the mutation was considered potentially pathogenic. The application of antiepileptic drugs was effective in controlling epileptic seizures. Conclusions:Auditory symptoms are main clinical manifestations for the child with autosomal dominant lateral temporal lobe epilepsy. Antiepileptic drugs can effectively control epileptic seizures of the child, and the MICAL1 gene c.763G>T (p.Val255Leu) mutation is the genetic cause of the proband.
