SLC13A5 基因突变致早发幼儿癫痫性脑病 25 型一例并文献复习_Journal of Epilepsy

Authors：

周静宜 ¹ ,  王菊莉 ² , 张月华 ³ , 韩翔宇 ² , 韩清梅 ¹

1. ;
2. ;
3. ;

Corresponding author：

王菊莉, Email: wjl198981@163.com

Keywords：

DOI：

10.7507/2096-0247.20210092

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Citation： 周静宜, 王菊莉, 张月华, 韩翔宇, 韩清梅. SLC13A5 基因突变致早发幼儿癫痫性脑病 25 型一例并文献复习. Journal of Epilepsy, 2021, 7(6): 555-559. doi: 10.7507/2096-0247.20210092 Copy

1.	赵滢, 章清萍, 包新华. 早发性癫痫脑病遗传学研究进展. 中国实用儿科杂志, 2015, (4): 310-314.
2.	Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia, 2010, 51(4): 676-685.
3.	Pressler RM, Cilio MR, Mizrahi EM, et al. The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia, 2021, (62): 615-628.
4.	Schossig A, Bloch-Zupan A, Lussi A, et al. SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome. J Med Genet, 2017, 54(1): 54-62.
5.	Weeke LC, Brilstra E, Braun KP, et al. Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations. Eur J Paediatr Neurol, 2017, 21(2): 396-403.
6.	Bhutia YD, Kopelet JJ, Lawrenceal JJ, et al. Plasma membrane Na(+)-coupled citrate transporter (SLC13A5) and neonatal epileptic encephalopathy. Molecules, 2017, 22(3): 378-393.
7.	Westergaard N, Waagepetersen H S, Belhage B, et al. Citrate, a ubiquitous key metabolite with regulatory function in the CNS. Neurochem Res, 2017, 42(6): 1-6.
8.	Sauer DB, Song J, Wang B, et al. Structure and inhibition mechanism of the human citrate transporter NaCT. Nature, 2021, 591: 157-161.
9.	Huard K, Brown J, Jones J C, et al. Discovery and characterization of novel inhibitors of the sodium-coupled citrate transporter (NaCT or SLC13A5). Sci Rep, 2015, 5(1): 1-13.
10.	Matricardi S, Liso PD, Freri E, et al. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. Epilepsia, 2020, (00): 1-12.
11.	Yang QZ, Spelbrink EM, Nye KL, et al. Epilepsy and EEG phenotype of SLC13A5 citrate transporter disorder. Child Neurol Open, 2020, 7: 1-7.
12.	Thevenon J, Milh M, Feillet F, et al. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet, 2014, 95(1): 113-120.
13.	Nashabat M, Qahtani XA, Almakdob S, et al. The landscape of early infantile epileptic encephalopathy in a consanguineous population. Seizure:Europea J Epilep, 2019, 69: 154-172.
14.	Takai A, Yamaguchi M, Yoshida H, et al. Investigating developmental and epileptic encephalopathy using drosophila melanogaster. Int J Mol Sci, 2020, 21(17): 1-40.
15.	Kann O. The interneuron energy hypothesis: Implications for brain disease. Neurobiol Dis, 2016, 90: 75-85.
16.	Consortium E, Project EPG, Consortium E. De novo mutations in synaptic transmission genes including dnm1 cause epileptic encephalopathies. AmJ Hum Genet, 2014, 95(4): 360-370.
17.	Hardies K, Kovel CG, Weckhuysen S, et al. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain, 2015, 138(11): 1-13.
18.	Klotz J, Porter BE, Colas C, et al. Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay. Mol Med, 2016, 22: 310-321.
19.	Alhakeem A, Alshibani F, Tabarki B. Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy. Brain Dev, 2018: 1-3.
20.	Bainbridge MN, Cooney E, Miller M, et al. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab, 2017, 121(4): 314-319.

1. 赵滢, 章清萍, 包新华. 早发性癫痫脑病遗传学研究进展. 中国实用儿科杂志, 2015, (4): 310-314.
2. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia, 2010, 51(4): 676-685.
3. Pressler RM, Cilio MR, Mizrahi EM, et al. The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia, 2021, (62): 615-628.
4. Schossig A, Bloch-Zupan A, Lussi A, et al. SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome. J Med Genet, 2017, 54(1): 54-62.
5. Weeke LC, Brilstra E, Braun KP, et al. Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations. Eur J Paediatr Neurol, 2017, 21(2): 396-403.
6. Bhutia YD, Kopelet JJ, Lawrenceal JJ, et al. Plasma membrane Na(+)-coupled citrate transporter (SLC13A5) and neonatal epileptic encephalopathy. Molecules, 2017, 22(3): 378-393.
7. Westergaard N, Waagepetersen H S, Belhage B, et al. Citrate, a ubiquitous key metabolite with regulatory function in the CNS. Neurochem Res, 2017, 42(6): 1-6.
8. Sauer DB, Song J, Wang B, et al. Structure and inhibition mechanism of the human citrate transporter NaCT. Nature, 2021, 591: 157-161.
9. Huard K, Brown J, Jones J C, et al. Discovery and characterization of novel inhibitors of the sodium-coupled citrate transporter (NaCT or SLC13A5). Sci Rep, 2015, 5(1): 1-13.
10. Matricardi S, Liso PD, Freri E, et al. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. Epilepsia, 2020, (00): 1-12.
11. Yang QZ, Spelbrink EM, Nye KL, et al. Epilepsy and EEG phenotype of SLC13A5 citrate transporter disorder. Child Neurol Open, 2020, 7: 1-7.
12. Thevenon J, Milh M, Feillet F, et al. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet, 2014, 95(1): 113-120.
13. Nashabat M, Qahtani XA, Almakdob S, et al. The landscape of early infantile epileptic encephalopathy in a consanguineous population. Seizure:Europea J Epilep, 2019, 69: 154-172.
14. Takai A, Yamaguchi M, Yoshida H, et al. Investigating developmental and epileptic encephalopathy using drosophila melanogaster. Int J Mol Sci, 2020, 21(17): 1-40.
15. Kann O. The interneuron energy hypothesis: Implications for brain disease. Neurobiol Dis, 2016, 90: 75-85.
16. Consortium E, Project EPG, Consortium E. De novo mutations in synaptic transmission genes including dnm1 cause epileptic encephalopathies. AmJ Hum Genet, 2014, 95(4): 360-370.
17. Hardies K, Kovel CG, Weckhuysen S, et al. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain, 2015, 138(11): 1-13.
18. Klotz J, Porter BE, Colas C, et al. Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay. Mol Med, 2016, 22: 310-321.
19. Alhakeem A, Alshibani F, Tabarki B. Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy. Brain Dev, 2018: 1-3.
20. Bainbridge MN, Cooney E, Miller M, et al. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab, 2017, 121(4): 314-319.

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