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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 …
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 …
Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy.
Jaramillo-Martinez V, Sennoune SR, Tikhonova EB, Karamyshev AL, Ganapathy V, Urbatsch IL. Jaramillo-Martinez V, et al. bioRxiv [Preprint]. 2024 May 23:2024.05.23.594637. doi: 10.1101/2024.05.23.594637. bioRxiv. 2024. PMID: 38826402 Free PMC article. Preprint.
Mutations in SLC13A5 cause early infantile epileptic encephalopathy type-25 (EIEE25, SLC13A5 Epilepsy) due to impaired citrate uptake in neurons. ...The two classes of mutations will require fundamentally different treatment approaches to either restore trans …
Mutations in SLC13A5 cause early infantile epileptic encephalopathy type-25 (EIEE25, SLC13A5 Epilepsy) due to impaired …
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 …
SLC13A5 is the second gene associated with Kohlschutter-Tonz syndrome.
Schossig A, Bloch-Zupan A, Lussi A, Wolf NI, Raskin S, Cohen M, Giuliano F, Jurgens J, Krabichler B, Koolen DA, de Macena Sobreira NL, Maurer E, Muller-Bolla M, Penzien J, Zschocke J, Kapferer-Seebacher I. Schossig A, et al. J Med Genet. 2017 Jan;54(1):54-62. doi: 10.1136/jmedgenet-2016-103988. Epub 2016 Sep 6. J Med Genet. 2017. PMID: 27600704 Clinical Trial.
Dental histological investigations were performed on teeth from individuals with SLC13A5-associated and ROGDI-associated KTZS. RESULTS: Biallelic mutations in SLC13A5 were identified in 10 affected individuals. ...Careful clinical and dental delineation provides clu …
Dental histological investigations were performed on teeth from individuals with SLC13A5-associated and ROGDI-associated KTZS. RESULT …
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 …
37 results