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IQSEC2

基因产物：含IQ基序和Sec7结构域的二磷酸腺苷核糖基化因子鸟嘌呤核苷酸交换因子2（IQ Motif And Sec7 Domain ArfGEF 2）。

蛋白功能：是兴奋性突触后突触密度的组成部分，可调节兴奋性突触处谷氨酸受体介导的反应，还参与跨膜转运、脂质转化和肌动蛋白细胞骨架重组，在学习过程和记忆机制中发挥重要作用[4]。

相关疾病：X连锁智力发育障碍（XLD）[1]；婴儿癫痫性痉挛综合征（XLD）[2]；Lennox-Gastaut 综合征（XLD）[3]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 38851096 (Seizure. 2024)；30206421 (Genet Med. 2019)）

用药提醒：主要根据癫痫综合征选择用药，常为抗癫痫发作药物难治性，其中有使用吡仑帕奈后效果较好的报道（其中一例是托吡酯加用吡仑帕奈，也有吡仑帕奈使用后效果不佳的报道）[2, 4-5]，另有报道该基因变异的孩子发热后癫痫发作反而减少，其中一例有报道经40°C按摩热浴治疗后，癫痫发作及孤独症样表现得到改善，并在相应的该基因变异的小鼠实验中得到验证[6-8]，此外也有对类固醇激素反应良好的报道（也有反应不好的报道）[2, 9]。

讨论版块：点击进入IQSEC2基因突变讨论版块。

 

参考文献

  1. Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Front Mol Neurosci. 2016 Jan 11:8:85.
  2. Genotypes and phenotypes of IQSEC2 gene variants related epilepsy. Zhonghua Er Ke Za Zhi. 2022 Dec 2;60(12):1317-1321.
  3. A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family. Genet Test Mol Biomarkers. 2020 Jan;24(1):54-58.
  4. Perampanel treatment in IQSEC2-associated epileptic encephalopathy. Zh Nevrol Psikhiatr Im S S Korsakova. 2025;125(2):143-149.
  5. Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant. Brain Dev, 2021, 43(5):652‐656.
  6. Reduction in seizure burden in a child with a A350V IQSEC2 mutation using heat therapy with a Jacuzzi. Clin Case Rep. 2021 Aug 30;9(9):e04734.
  7. Housing of A350V IQSEC2 pups at 37 °C ambient temperature prevents seizures and permits the development of social vocalizations in adulthood. Int J Hyperthermia. 2021;38(1):1495-1501.
  8. Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction. Int J Mol Sci. 2023 Feb 15;24(4):3924.
  9. Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms. J Pediatr Genet. 2020 Dec 7;12(1):76-80.