Clinical features and genetic analysis of hereditary epilepsy(report of 2 families)
10.3969/j.issn.1004-1648.2024.04.010
- VernacularTitle:遗传性癫痫的临床特征及遗传学分析(附2家系报告)
- Author:
Fang YANG
1
;
Cang LI
;
Wenwu LI
Author Information
1. 675000 云南省楚雄彝族自治州人民医院神经内一科
- Keywords:
epilepsy;
generalized tonic-clonic seisure;
DEPDC5 gene;
CACNA1H gene
- From:
Journal of Clinical Neurology
2024;37(4):274-277
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features and genetic etiology of two families with hereditary epilepsy.Methods The Clinical data of two hereditary epilepsy families were retrospectively analyzed.Results The proband and his mother in family 1 showed generalized tonic-clonic seizures and intellectual disability.Whole exome sequencing(WES)showed that both proband and his mother carried a heterozygous missense mutation of DEPDC5 gene NM_001242896 exon2:c.20A>G(p.Y7C).The American College of Medical Genetics and Genomics(ACMG)guidelines evaluated this mutation as a possible pathogenic mutation.The proband and his sister in family 2 showed episodic limb convulsions with loss of consciousness.His mother had a history of"epilepsy".WES showed that the proband,his mother and his sister carried the heterozygous missense mutation of CACNA1H gene NM_021098 exon7:c.844G>A(p.E282K).ACMG-related guidelines assessed this mutation as a possible pathogenic mutation.Conclusion DEPDC5 gene NM_001242896 exon2:c.20A>G(p.Y7C)heterozygous missense mutation,CACNA1H gene NM_021098 exon7:c.844G>A(p.E282K)heterozygous missense mutation may be the genetic etiology of generalized tonic-clonic seizures,and both are autosomal dominant inheritance.
