We report a 2.5-year-old Turkish boy who first presented with nystagmus, lack of eye contact, and hypotonia at 2 months of age and developed refractory seizures when 6 months old. Extensive metabolic tests and imaging being noncontributory, whole-exome sequencing was carried out which revealed a heterozygote NM_001134407.2:C.3299A>G (p.Glu1100Gly) novel mutation in GRIN2A gene. Topiramate was started and seizures were rapidly brought under control. GRIN2A mutations may result in altered GluN2A membrane trafficking and response to glutamate. This report illustrates the clinical variability of GRIN2A mutations according to the age of onset of symptoms and suggests considering mutations in this gene in cases of global developmental delay, refractory epilepsy, and nystagmus.


中文翻译：

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具有全球发育延迟和难治性癫痫的GRIN2A基因新突变的鉴定


我们报道了一个2.5岁的土耳其男孩，他在2个月大时首次出现眼球震颤，缺乏眼神交流和肌张力低下，并在6个月大时出现难治性癫痫发作。广泛的代谢测试和成像是无贡献的，进行了全外显子组测序，揭示了GRIN2A基因中的杂合子NM_001134407.2：C.3299A> G（p.Glu1100Gly）新突变。托吡酯开始治疗，癫痫发作迅速得到控制。GRIN2A突变可能导致改变的GluN2A膜运输和对谷氨酸的反应。该报告说明了GRIN2A的临床变异性 根据症状发作的年龄进行突变，并建议在整体发育延迟，难治性癫痫和眼球震颤的情况下考虑该基因的突变。