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
- 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.