Fibroblast growth factor 12 (FGF12) spans 5 exons and encodes for a cytosolic voltage-gated sodium channel binding protein that modulates neuronal excitability.^1,2 A recurrent activating FGF12 mutation (NM_021032, [GRCh37] 192053223C>T, p.R114H in A-isoform, p.R52H in B-isoform) causes epileptic encephalopathy (EE) with neonatal onset and intellectual disability (ID).^2–6 Recently, a tandem duplication involving exons 1–4 of the FGF12 gene was related to a later onset EE phenotype.⁷ Here, we characterize a second case harboring a FGF12 exon 1–4 duplication.

中文翻译：

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FGF12外显子1-4串联重复导致的儿童发作性癫痫性脑病。

成纤维细胞生长因子12（FGF12）跨越5个外显子，并编码调节神经元兴奋性的胞浆电压门控钠通道结合蛋白。^1,2反复激活的FGF12突变（NM_021032，[GRCh37] 192053223C> T，A型亚型中的p.R114H，B型亚型中的p.R52H）会导致癫痫性脑病（EE），并伴有新生儿发作和智力障碍（ID）。^2-6最近，涉及FGF12基因外显子1-4的串联复制与后来的EE表型有关。⁷在这里，我们描述了第二个病例，该病例包含FGF12外显子1-4重复。