FGF12

基因产物:成纤维细胞生长因子12。

蛋白功能:可与电压门控钠离子通道Nav1.6胞质尾部相互作用,引起电压依赖性神经钠离子通道的快速失活。

相关疾病:早发性癫痫脑病(AD)(部分可表现为婴儿癫痫伴游走性局灶性发作婴儿癫痫性痉挛综合征)[1-3]。

突变数据库:ClinVar数据库

相关基础研究:转基因小鼠模型(PMID: 33982289 (Epilepsia. 2021)

相关临床研究:PubMed数据库(PMID: 27164707 (Neurology. 2016); PMID: 27830185 (Neurol Genet. 2016); PMID: 27872899 (Neurol Genet. 2016);PMID: 28144627 (Neurol Genet. 2017); PMID: 28506426 (Eur J Paediatr Neurol. 2017); PMID: 29699863 (Brain Dev. 2018); PMID: 31311986 (J Hum Genet. 2019); PMID: 31292943 (Clin Genet. 2019); PMID: 32524056 (Epilepsia Open. 2020); PMID: 32645220 (Epilepsia. 2020);PMID: 34020858 (Brain Dev. 2021)

用药提醒:部分对钠通道阻滞剂和高剂量苯巴比妥有效[2],此外也有报道丙戊酸钠联合托吡酯对治疗该基因所致的早发性癫痫脑病有效[4]

讨论版块点击进入FGF12基因突变讨论版块

 

参考文献

  1. Al-Mehmadi, S., et al., FHF1 (FGF12) epileptic encephalopathy.Neurol Genet, 2016. 2(6): p. e115.
  2. Takeguchi, R., et al., Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.Brain Dev, 2018. 40(8): p. 728-732.
  3. Oda, Y., et al., Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. J Hum Genet, 2019. 64(10): p. 1005-1014.
  4. Tian, Q., et al., Effective treatments for FGF12-related early-onset epileptic encephalopathies patients. Brain Dev, 2021. 43(8): p. 851-856.