Open AccessACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature
Author(s) -
Wenxian Yang,
Hang-Hu Zhang,
Jia-Ni Hu,
Li Zhao,
Yanyun Li,
Xiaoli Shao
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i29.8789
Subject(s) - medicine , ductus arteriosus , epilepsy , cardiology , gene mutation , patent foramen ovale , mutation , migraine , biochemistry , chemistry , psychiatry , gene
ACTA2 gene is a specific gene that encodes actin α2. Multisystem smooth muscle dysfunction syndrome (MSMDS) is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene mutations. There have been many reports of cardiac, pulmonary and cerebrovascular lesions caused by MSMDS; however, few studies have focused on seizures caused by MSMDS.