A novel PIGA mutation in a Taiwanese family with early-onset epileptic encephalopathy. (May 2018)

• Record Type: Journal Article
• Authors: Lin, Wei-De; Chou, I-Ching; Tsai, Fuu-Jen; Hong, Syuan-Yu
• Is Part Of: Seizure. Volume 58(2018)
• Page Start: 52
• Page End: 54
• Publication Date: 2018-05
• Subjects: Epilepsy -- Periodicals; Epilepsy -- Periodicals; Seizures -- Periodicals; Épilepsie -- Périodiques; Electronic journals; Electronic journals; 616.853
• DOI: 10.1016/j.seizure.2018.03.025
• Languages: English
• ISSNs: 1059-1311

Abstract

Abstract: Purpose: We report the first family with PIGA- associated epileptic encephalopathy in Taiwan and hope to elucidate its special phenotype and inheritance pattern. Method: We found a Taiwanese family with several members suffered from severe epileptic encephalopathy (ZY07, ZY01, ZY04). To determine the underlying etiology, whole exome sequencing was conducted. Results: A single novel variant, NM_002641: c.356G > A, p.Arg119Gln, was identified in the X chromosome PIGA gene in our proband patient (ZY07). The patient's mother (ZY02) and aunt (ZY03) were confirmed as carriers of the hemizygous variant. Conclusions: This paper highlights the highly transmitted features of PIGA and other X-linked EIEEs, raising awareness of rare forms of epileptic encephalopathy.