ハイチ　アイコ   Haichi Aiko   拜地　愛子    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS)
掲載誌名	正式名：Epileptic Disorders: 略　 称：Epileptic Disord ISSNコード：12949361/19506945
掲載区分	国外
出版社	JOHN LIBBEY EUROTEXT
巻・号・頁	22(4),pp.476-481
著者・共著者	NISHIKAWA Aiko†, OTNI Yui, ITO Susumu, NAGATA Satoru, SHIOTA Mutsuki, TAKANASHI Jun-ichi, NAKASHIMA Mitsuko, SAITSU Hirotomo, MATSUMOTO Naomichi, OGUNI Hirokazu*
担当区分	筆頭著者
発行年月	2020/08/01
概要	We report a child who developed myoclonic status epilepticus (MSE) at four months of age, associated with rhythmic high-amplitude delta and superimposed (poly) spikes (RHADS), harbouring a GABRB2 (2 subunit of the GABA A receptor) variant. The patient was treated under a presumptive diagnosis of neonatal-onset Alpers syndrome (AS) and underwent targeted sequence analysis for POLG1 (polymerase gamma 1) and subsequent whole-exome sequence analysis (WES). The patient is currently a 10-year, eight-month-old boy, suffering from daily MSE associated with RHADSand severe global developmental delay from early infancy. Although POLG1 mutation was negative, WES revealed a de novo missense variant of GABRB2 (NM_021911.2: c.784G>T, p.[Val262Phe]). Based on a review of case series with GABRB2 variants, we found that five of the 18 cases shared the clinical and EEG characteristics associated with our patient. In summary, this de novo GABRB2 variant was associated with an AS phenotype, characterized by treatment-resistant MSE and RHADS, and may represent an alternative aetiology for neonatal-onset AS without POLG1 mutation [Published with video sequence].
DOI	10.1684/epd.2020.1183