Abstract：
Germline MICAL1 defects have been rarely reported in patients with epilepsy and the genotype-phenotype association remains unclear. In this study, the patient was a 4.6 years old girl who presented with onset of recurrent focal seizures with onset at age 3.4 years. EEG showed abnormal δ-wave activity in the right central and middle temporal lobe. Trio WES showed a novel heterozygous variant c.-43-1G > A in the MICAL1 gene in the patient and her normal mother. Minigene verified two abnormal transcripts due to the mutation, which was predicted to interrupt 5\'UTR structures of MICAL1. The patient was clinically diagnosed with benign childhood epilepsy with centrotemporal spike (BECTS). As far as we know, this is the first BECTS case with documented MICAL1 mutation. Novel MICAL1 variant c.-43-1G > A putatively interrupted MICAL1 translation by changing 5\'UTR structures and, however, further functioning study is needed.
摘要：
在癫痫患者中很少报道生殖系MICAL1缺陷，基因型-表型相关性仍不清楚。在这项研究中,患者是一名4.6岁女孩,出现复发性局灶性癫痫发作,发病年龄为3.4岁.EEG显示右中央和中颞叶的δ波活动异常。TrioWES在患者及其正常母亲的MICAL1基因中显示出一种新的杂合变体c.-43-1G>A。Minigene证实了由于突变导致的两个异常转录本,预计会中断MICAL1的5个UTR结构。该患者临床诊断为良性儿童癫痫伴中央颞峰（BECTS）。据我们所知,这是第一例有MICAL1突变的BECTS病例.新型MICAL1变体c.-43-1G>通过改变5'UTR结构和，然而,需要进一步的功能研究。
