Variants in HNRNPU have been reported in patients with epileptic encephalopathy, early infantile 54 (OMIM 602,869). We hereby describe two children from different families with autosomal dominance early-onset epileptic encephalopathy and summarize the genotype and phenotype of reported individuals.

中文翻译：

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早期婴儿癫痫性脑病患者 HNRNPU 的从头移码变异：2 例报告和文献复习

在患有癫痫性脑病的早期婴儿 54 (OMIM 602,869) 患者中报告了HNRNPU的变异。我们在此描述了两名来自不同家庭的常染色体显性遗传早发性癫痫性脑病儿童，并总结了报告个体的基因型和表型。