A SYS patient was included in this study. Detailed neurological examinations and EEG were performed from neonate to infant ages. Sanger sequencing was performed.
Our patient presented abnormal EEG findings and had diffuse brain dysfunction symptoms including a reduced level of consciousness, diminished spontaneous movements, hypotonia, feeding difficulties, and hypoventilation from early after birth. As she grew older and her background activity of EEG normalized, her neurodevelopmental symptoms remained but improved. Sanger sequencing of this patient revealed a novel, heterozygous c.2005C > T, truncating mutation in the MEGAL2 gene.
We described an SYS-associated, time-dependent, EEG pattern in a patient with SYS. Our findings of longitudinal EEG changes in a patient with SYS revealed a specific pattern of how affected individuals develop brain function.
本研究包括一名SYS患者。从新生儿到婴儿年龄进行了详细的神经系统检查和EEG。进行Sanger测序。
我们的患者表现出异常的脑电图结果,并有弥漫性脑功能障碍症状,包括意识水平降低,减少自发运动,低张力,喂养困难,出生后早期通气不足。随着年龄的增长和脑电图的背景活动正常化,她的神经发育症状仍然存在,但有所改善。这个病人的桑格测序揭示了一个新的,杂合c.2005C>T,MEGAL2基因中的截断突变。
我们描述了一个与SYS相关的,依赖于时间,SYS患者的脑电图模式。我们对SYS患者的纵向EEG变化的发现揭示了受影响的个体如何发展大脑功能的特定模式。