N‐ethylmaleimide‐sensitive factor (NSF) plays a critical role in intracellular vesicle transport, which is essential for neurotransmitter release. Herein, we, for the first time, document human monogenic disease phenotype of de novo pathogenic variants in NSF, that is, epileptic encephalopathy of early infantile onset. When expressed in the developing eye of Drosophila, the mutant NSF severely affected eye development, while the wild‐type allele had no detectable effect under the same conditions. Our findings suggest that the two pathogenic variants exert a dominant negative effect. De novo heterozygous mutations in the NSF gene cause early infantile epileptic encephalopathy.

中文翻译：

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从头NSF突变会导致早期婴儿癫痫性脑病。

N-乙基马来酰亚胺敏感因子（NSF）在细胞内囊泡运输中起关键作用，这对于释放神经递质至关重要。在此，我们首次记录了NSF中从头致病性变异的人类单基因疾病表型，即婴儿早期发作的癫痫性脑病。当在果蝇的发育眼中表达时，突变的NSF严重影响了眼的发育，而野生型等位基因在相同条件下没有可检测的作用。我们的发现表明，两种致病变体发挥了主要的负面作用。NSF基因中的从头杂合突变导致了早期的婴儿癫痫性脑病。