Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report
Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report
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STXBP1 突变同卵双胞胎的不一致表型：病例报告
DOI：
10.1016/j.seizure.2022.06.019
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Kato M. et al.
中科院分区：
文献类型：
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作者：
Kobayashi Hikaru、Matsushige Takeshi、Hoshide Madoka、Hoshide M;Hidaka I;Ichiyama T;Kato M. et al.
据我们所知，这是首例同卵双胞胎STXBP1突变严重程度不一致的报道。在新生儿期间观察到双胞胎的癫痫发作，并伴有脑电图抑制-爆发模式的OS发展。然而，患者1转变为WS，其脑电图异常一直持续到最后一次就诊，并表现出严重的发育迟缓。相比之下，患者2在婴儿期癫痫自行消退，发育过程稍好。
DiscussionTo the best of our knowledge, this is the first report of identical twins with STXBP1 mutations showing discordant severity. Seizures in the twins were observed during the neonatal period, accompanied by the development of OS with a suppression-burst pattern on EEG. However, patient 1 transitioned to WS, his EEG abnormalities persisted until the last visit, and he showed profound developmental delay. In contrast, patient 2 had spontaneous resolution of epilepsy during infancy and a slightly better developmental course.