Takeguchi Ryo, Haginoya Kazuhiro, Uchiyama Yuri, Fujita Atsushi, Nagura Michiaki, Takeshita Eri, Inui Takehiko, Okubo Yukimune, Sato Ryo, Miyabayashi Takuya, Togashi Noriko, Saito Takashi, Nakagawa Eiji, Sugai Kenji, Nakashima Mitsuko, Saitsu Hirotomo, Matsumoto Naomichi, Sasaki Masayuki
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Department of Pediatric Neurology, Miyagi Children's Hospital, Miyagi, Japan.
Brain Dev. 2018 Sep;40(8):728-732. doi: 10.1016/j.braindev.2018.04.002. Epub 2018 Apr 23.
A heterozygous mutation in the fibroblast growth factor 12 (FGF12) gene, which elevates the voltage dependence of neuronal sodium channel fast inactivation, was recently identified in some patients with epileptic encephalopathy. Here we report 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). These 2 patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing. This mutation is identical to previously reported mutations in cases with early onset epileptic encephalopathy. One of our cases exhibited EIMFS, and this case responded to phenytoin and high-dose phenobarbital (PB). FGF12-related epileptic encephalopathy may exhibit diverse phenotypes and may respond to sodium channel blockers or high-dose PB.
成纤维细胞生长因子12（FGF12）基因中的杂合突变可提高神经元钠通道快速失活的电压依赖性，最近在一些癫痫性脑病患者中被发现。在此，我们报告1例被诊断为早期婴儿癫痫性脑病（EIEE）的日本患者和另1例被诊断为婴儿期伴有游走性局灶性发作的癫痫（EIMFS）的患者。这2例患者在FGF12基因中具有相同的杂合错义突变[c.341G>A:p.(Arg114His)]，该突变通过全外显子测序得以鉴定。此突变与先前报道的早发性癫痫性脑病病例中的突变相同。我们的1例病例表现为EIMFS，该病例对苯妥英和高剂量苯巴比妥（PB）有反应。FGF12相关的癫痫性脑病可能表现出多种表型，并且可能对钠通道阻滞剂或高剂量PB有反应。
