Infantile epileptic spasms syndrome caused by mutations in the ADGRV1 gene: a case report
- VernacularTitle:ADGRV1基因变异致婴儿癫痫性痉挛综合征1例
- Author:
Yanhua YU
1
;
Leilei XU
1
;
Li YANG
1
;
Ming LI
1
;
Min SUN
1
;
Xin ZHANG
1
;
Xixi YU
1
;
Yuzeng HAN
1
Author Information
- Publication Type:Journal Article
- Keywords: Epilepsy; Mutation; Infantile epileptic spasm syndrome; ADGRV1 gene
- From: Chinese Journal of Neurology 2025;58(3):313-319
- CountryChina
- Language:Chinese
- Abstract: The clinical phenotype heterogeneity of epilepsy patients with ADGRV1 gene mutation is significant, ranging from self limiting febrile seizures to developmental epileptic encephalopathy, even causing sudden epileptic death. A case of infantile epileptic spasms syndrome with a novel heterozygous variant of the ADGRV1 gene c.4100C>A (p.Thr1367Lys) was reported in this article. The site of this variant had not been reported yet, and the clinical manifestations of the child mainly included epileptic spasms (first onset at 4 months old), mild growth and development delay, highly irregular video electroencephalogram, and effective treatment with adrenocorticotropic hormone.
