A Chinese patient with epilepsy and WWOX compound heterozygous mutations. Issue 1 (13th March 2020)

• Record Type: Journal Article
• Authors: He, Jing; Zhou, Wenjing; Shi, Jie; Zhang, Bingqing; Wang, Haixiang
• Is Part Of: Epileptic disorders. Volume 22:Issue 1(2020)
• Page Start: 120
• Page End: 124
• Publication Date: 2020-03-13
• Subjects: epileptic encephalopathy -- infantile epilepsy -- WWOX gene -- compound heterozygous mutations -- Whole‐exome sequencing; Epilepsy -- Periodicals; 616.853
• DOI: 10.1684/epd.2020.1131
• Languages: English
• ISSNs: 1294-9361

Abstract

ABSTRACT: Early infantile epileptic encephalopathy type 28 is a refractory epilepsy with early onset, poor prognosis, and hereditary causes. WW domain‐containing oxidoreductase ( WWOX ) gene mutation can result in epileptic encephalopathy, but the mechanism remains unclear. We present the case of a patient with epilepsy and WWOX compound heterozygous mutations. The seizures manifested as tonic‐clonic, convulsive and were refractory to drugs. Magnetic resonance imaging showed a widened subarachnoid space and thin corpus callosum. The patient died from asphyxia at the age of one year and 23 days. Peripheral blood was taken from the patient and his parents, and whole‐exome sequencing was investigated to determine possible gene mutation. Two compound heterozygous mutations were identified: c.172+1G>C (with no amino acid change) and c.984C>G (amino acid change: p.Tyr328Ter). The pathophysiology of epileptic encephalopathy related to the WWOX gene remains to be determined, and further studies are required to elucidate possible mechanisms.