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SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.
Goodspeed K, Liu JS, Nye KL, Prasad S, Sadhu C, Tavakkoli F, Bilder DA, Minassian BA, Bailey RM. Goodspeed K, et al. Genes (Basel). 2022 Sep 15;13(9):1655. doi: 10.3390/genes13091655. Genes (Basel). 2022. PMID: 36140822 Free PMC article. Review.
In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which is caused by loss of function pathogenic variants t …
In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. On …
Plasma Membrane Na+-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy.
Bhutia YD, Kopel JJ, Lawrence JJ, Neugebauer V, Ganapathy V. Bhutia YD, et al. Molecules. 2017 Feb 28;22(3):378. doi: 10.3390/molecules22030378. Molecules. 2017. PMID: 28264506 Free PMC article. Review.
Recently however, loss-of-function mutations in human SLC13A5 have been found to cause severe epilepsy and encephalopathy early in life. ...Plausible synaptic mechanisms linking loss-of-function mutations in SLC13A5 to epilepsy are discussed....
Recently however, loss-of-function mutations in human SLC13A5 have been found to cause severe epilepsy and encephalopathy earl …
Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.
Yang QZ, Spelbrink EM, Nye KL, Hsu ER, Porter BE. Yang QZ, et al. Child Neurol Open. 2020 Jun 8;7:2329048X20931361. doi: 10.1177/2329048X20931361. eCollection 2020 Jan-Dec. Child Neurol Open. 2020. PMID: 32551328 Free PMC article.
Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. ...Patients EEGs had a relatively well-preserved backgroun …
Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins …
Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier.
Kopel JJ, Bhutia YD, Sivaprakasam S, Ganapathy V. Kopel JJ, et al. Biochem J. 2021 Feb 12;478(3):463-486. doi: 10.1042/BCJ20200877. Biochem J. 2021. PMID: 33544126 Free PMC article. Review.
NaCT/SLC13A5 is a Na+-coupled transporter for citrate in hepatocytes, neurons, and testes. ...These beneficial versus detrimental effects of SLC13A5 deficiency are separable only by the blood-brain barrier. ...
NaCT/SLC13A5 is a Na+-coupled transporter for citrate in hepatocytes, neurons, and testes. ...These beneficial versus detrimental eff …
Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy.
Santalucia R, Vilain C, Soblet J, De Laet C, Vuckovic A, König J, Aeby A. Santalucia R, et al. Ann Clin Transl Neurol. 2022 Jul;9(7):1095-1099. doi: 10.1002/acn3.51581. Epub 2022 May 28. Ann Clin Transl Neurol. 2022. PMID: 35633140 Free PMC article.
Recessive mutations in the SLC13A5 gene encoding the sodium-dependent citrate transporter are a recently identified cause of developmental and epileptic encephalopathy. ...This case expands the electro-clinical phenotype associated with SLC13A5-related disease and c …
Recessive mutations in the SLC13A5 gene encoding the sodium-dependent citrate transporter are a recently identified cause of developm …
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Bainbridge MN, et al. Mol Genet Metab. 2017 Aug;121(4):314-319. doi: 10.1016/j.ymgme.2017.06.009. Epub 2017 Jun 24. Mol Genet Metab. 2017. PMID: 28673551 Free PMC article.
RESULTS: Distinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of SLC13A5 function alters tricarboxylic acid cycle (TCA) metabolism and may disrupt metabolic compartmentation in the brain. SIGNIFICANCE: …
RESULTS: Distinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of S …
Novel Approaches to Studying SLC13A5 Disease.
Beltran AS. Beltran AS. Metabolites. 2024 Jan 24;14(2):84. doi: 10.3390/metabo14020084. Metabolites. 2024. PMID: 38392976 Free PMC article. Review.
The role of the sodium citrate transporter (NaCT) SLC13A5 is multifaceted and context-dependent. While aberrant dysfunction leads to neonatal epilepsy, its therapeutic inhibition protects against metabolic disease. ...Finally, I explore the relevance of these cellul …
The role of the sodium citrate transporter (NaCT) SLC13A5 is multifaceted and context-dependent. While aberrant dysfunction leads to …
The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy.
Whitney R, Choi E, Jones KC. Whitney R, et al. Seizure. 2023 Mar;106:8-13. doi: 10.1016/j.seizure.2023.01.014. Epub 2023 Jan 23. Seizure. 2023. PMID: 36701889 Free article. Review.
The neuroimaging spectrum of SLC13A5 related DEE is not fully known. We present a case of SLC13A5 related DEE with distinct neuroimaging findings and review the neuroimaging findings of all published cases of SLC13A5 related DEE. ...RESULTS: A 16-month-old ma …
The neuroimaging spectrum of SLC13A5 related DEE is not fully known. We present a case of SLC13A5 related DEE with distinct ne …
NaCT/SLC13A5 facilitates citrate import and metabolism under nutrient-limited conditions.
Kumar A, Cordes T, Thalacker-Mercer AE, Pajor AM, Murphy AN, Metallo CM. Kumar A, et al. Cell Rep. 2021 Sep 14;36(11):109701. doi: 10.1016/j.celrep.2021.109701. Cell Rep. 2021. PMID: 34525352 Free PMC article.
Recent studies have observed that deficiency of the sodium-dependent citrate transporter (NaCT), encoded by SLC13A5, dysregulates hepatic metabolism and drives pediatric epilepsy. To examine how NaCT contributes to citrate metabolism in cells relevant to the pathoph …
Recent studies have observed that deficiency of the sodium-dependent citrate transporter (NaCT), encoded by SLC13A5, dysregulates hep …
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S, De Liso P, Freri E, Costa P, Castellotti B, Magri S, Gellera C, Granata T, Musante L, Lesca G, Oertel J, Craiu D, Hammer TB, Møller RS, Barisic N, Abou Jamra R, Polster T, Vigevano F, Marini C. Matricardi S, et al. Epilepsia. 2020 Nov;61(11):2474-2485. doi: 10.1111/epi.16699. Epub 2020 Oct 16. Epilepsia. 2020. PMID: 33063863 Review.
OBJECTIVE: Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. ...METHODS: We collected clinical features of 14 patients carrying biallelic variants in SLC …
OBJECTIVE: Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developme …
35 results