PRRT2

基因产物：富含脯氨酸跨膜蛋白2。

蛋白功能：主要定位于突触前膜，可于SNAP25相互作用，参与神经递质释放过程的调控[1]。

相关疾病：家族性婴儿惊厥伴发作性舞蹈手足徐动症（AD）[2]；发作性运动诱发性运动障碍（AD）[3]；自限性家族性婴儿癫痫（AD）[2]；偏瘫性偏头痛[4]；婴儿癫痫伴游走性局灶性发作[5]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 26446061(Neurology. 2015); PMID: 25520928 (Biomedicine (Taipei). 2014); PMID: 23535490 (Neurology. 2013) ; PMID: 36775847 (Epilepsia Open. 2023)）

用药提醒：PRRT2突变所致的发作性运动诱发性运动障碍（PKD）往往对小剂量的卡马西平就会有很好的效果，对于该基因变异所致的自限性家族性婴儿癫痫，卡马西平、奥卡西平等钠通道阻滞剂也往往具有最佳的效果，建议作为首选[6]。

讨论版块：点击进入PRRT2基因突变讨论版块。

参考文献

1. Coleman, J., et al., PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.Cell Rep, 2018. 22(3): p. 820-831.
2. Heron, S.E., et al., PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.Am J Hum Genet, 2012. 90(1): p. 152-60.
3. Li, H.F., et al., PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.Neurology, 2013. 80(16): p. 1534-5.
4. Ebrahimi-Fakhari, D., et al., The evolving spectrum of PRRT2-associated paroxysmal diseases.Brain, 2015. 138(Pt 12): p. 3476-95.
5. Liwen Wu., et al., Epilepsy of Infancy With Migrating Focal Seizures (EIMFS): Expansion of Clinical Phenotypic And Genotypic Spectra. Scientific Reports, 2021.12 (under review, for medical professional reference only).
6. PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers. Epilepsia Open . 2023 Jun;8(2):436-443.