SLC25A22
基因产物:溶质载体家族25(线粒体谷氨酸/H+转运体)成员22。
蛋白功能:在星形胶质细胞中高度表达,参与谷氨酸跨线粒体膜运输。
相关疾病:发育性癫痫性脑病3型(可表现为婴儿癫痫伴游走性局灶性发作;大田原综合征;早期肌阵挛脑病)(AR)[1-4]。
突变数据库:ClinVar数据库。
用药提醒:常为抗癫痫发作药物难治性,其中有一例报道在使用丙戊酸钠治疗不佳后先后加用苯巴比妥和托吡酯后癫痫发作控制良好[5]。
讨论版块:点击进入SLC25A22基因突变讨论版块。
参考文献
- Molinari, F., et al., Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.Clin Genet, 2009. 76(2): p. 188-94.
- Poduri, A., et al., SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol, 2013. 74(6): p. 873-82.
- Lemattre, C., et al., Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group. Eur J Hum Genet, 2019. 27(11): p. 1692-1700.
- Cohen, R., et al., Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22. Eur J Paediatr Neurol, 2014. 18(6): p. 801-5.
- Seizure. 2019 Aug:70:56-58.