Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. Capicua transcriptional repressor (CIC) is an important gene associated with mental retardation, autosomal dominant 45. Affiliated tissues including skin, brain, bone, and related phenotypes are intellectual disability and seizures. Clinical, biochemical, and whole exome analysis are carried out in a Turkish family. Mutation analysis of G6PD and CIC genes by Sanger sequencing in the whole family was carried out to reveal the effect of these mutations on the patient’s clinical outcome. Here, we present the case of epilepsy in an 8-year-old child with a hemizygous variation in G6PD gene and heterozygous mutation in CIC gene, resulting in focal epileptiform activity and hypsarrhythmia in electroencephalography (EEG), seizures, psychomotor retardation, speech impairment, intellectual disability, developmental regression, and learning difficulties. Whole exome sequencing confirmed the diagnosis of X-linked increased susceptibility for hemolytic anemia due to G6PD deficiency and mental retardation type 45 due to CIC variant, which explained the development of epileptic seizures. Considering CIC variant and relevant relation with the severity and course of the disease, G6PD mutations sustained through the family are defined as hereditary. Our findings could represent the importance of variants found in G6PD as well as CIC genes linked to the severity of epilepsy, which was presumed based on the significant changes in protein configuration.

葡萄糖 6-磷酸脱氢酶 (G6PD) 缺乏症是一种 X 连锁隐性疾病，可引起急性或慢性溶血性贫血，并可能导致对氧化剂反应的严重黄疸。Capicua 转录抑制子 (CIC) 是与智力低下相关的重要基因，常染色体显性 45。附属组织包括皮肤、大脑、骨骼和相关表型是智力障碍和癫痫发作。临床、生化和全外显子组分析在一个土耳其家庭中进行。通过Sanger测序对全家系G6PD和CIC基因进行突变分析，揭示这些突变对患者临床结局的影响。在这里，我们介绍了一个 8 岁儿童的癫痫病例，其 G6PD 基因半合子变异和 CIC 基因杂合子突变，导致局灶性癫痫样活动和脑电图（EEG）、癫痫发作、精神运动迟缓、言语障碍、智力障碍、发育倒退和学习困难。全外显子组测序证实了由于 G6PD 缺乏导致的 X 连锁溶血性贫血易感性增加和 CIC 变异导致的 45 型智力低下的诊断，这解释了癫痫发作的发展。考虑到 CIC 变异以及与疾病严重程度和病程的相关关系，通过家族持续的 G6PD 突变被定义为遗传性。我们的发现可以代表在 G6PD 中发现的变异以及与癫痫严重程度相关的 CIC 基因的重要性，这是基于蛋白质构型的显着变化推测的。