Research Paper: 2015 John

Date Published : 07/03/2015

Summary: COL4A1 gene mutation – beyond a vascular syndrome

Abstract:

COL4A1 mutations have been associated with a variety of vascular abnormalities and disease manifestations, including porencephaly, infantile hemiparesis, intracerebral hemorrhage in neonates and children, intracerebral hemorrhage and cerebral small vessel disease in adulthood, intracranial aneurysms, and retinal arteriolar tortuosities [1]. The gene encodes for type IV collagen a1 that forms the vascular basement membrane in heterotrimer triple helix collagen. Seizures have been described with COL4A1 mutation, the reasons for which are unknown. We present a patient with COL4A1 mutation who developed status epilepticus, and offer a hypothesis generating explanation for seizures in this monogenic cerebral small vessel disease.