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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：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。

讨论版块：点击进入SLC25A22基因突变讨论版块。 

参考文献

  1. 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.
  2. Poduri, A., et al., SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol, 2013. 74(6): p. 873-82.
  3. 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.
  4. 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.