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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. ...Tooth hypoplasia or hypodontia remains the peculiar feature. The SLC13A5 gene should …
OBJECTIVE: Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developme …
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
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.
BACKGROUND: SLC13A5 related developmental and epileptic encephalopathy (DEE) is an autosomal recessive condition characterized by neonatal seizures, fever sensitivity, status epilepticus, developmental delay and tooth anomalies. The neuroimaging spectrum of …
BACKGROUND: SLC13A5 related developmental and epileptic encephalopathy (DEE) is an autosomal recessive condition charac …
Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
Alsemari A, Guzmán-Vega FJ, Meyer BF, Arold ST. Alsemari A, et al. Pediatr Neurol. 2024 Feb;151:68-72. doi: 10.1016/j.pediatrneurol.2023.10.005. Epub 2023 Oct 19. Pediatr Neurol. 2024. PMID: 38113697
BACKGROUND: Early infantile epileptic encephalopathy 25 (EIEE25) is a distinct type of neonatal epileptic encephalopathy caused by autosomal recessive mutations in the SLC13A5 gene. ...METHODS: Four families with recessively inherited epilept
BACKGROUND: Early infantile epileptic encephalopathy 25 (EIEE25) is a distinct type of neonatal epileptic encephalop
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.
One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which is caused by loss of function pathogenic variants to the gene SLC13A5 that results in deficiency of the sodium/citrate cotransporter. ...Current antiseizure medications …
One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which is caused by loss of function patho …
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR. Duan R, et al. Am J Med Genet A. 2021 Jul;185(7):1972-1980. doi: 10.1002/ajmg.a.62192. Epub 2021 Apr 2. Am J Med Genet A. 2021. PMID: 33797191 Free PMC article.
Biallelic loss-of-function (LoF) of SLC13A5 (solute carrier family 13, member 5) induced deficiency in sodium/citrate transporter (NaCT) causes autosomal recessive developmental epileptic encephalopathy 25 with hypoplastic amelogenesis imperfecta (DEE25; MIM …
Biallelic loss-of-function (LoF) of SLC13A5 (solute carrier family 13, member 5) induced deficiency in sodium/citrate transporter (Na …
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.
Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. ...Screening of 68 additional unrela
Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by
Molecular Mechanisms of the SLC13A5 Gene Transcription.
Li Z, Wang H. Li Z, et al. Metabolites. 2021 Oct 15;11(10):706. doi: 10.3390/metabo11100706. Metabolites. 2021. PMID: 34677420 Free PMC article. Review.
Citrate is a crucial energy sensor that plays a central role in cellular metabolic homeostasis. The solute carrier family 13 member 5 (SLC13A5), a sodium-coupled citrate transporter highly expressed in the mammalian liver with relatively low levels in the testis and bra
Citrate is a crucial energy sensor that plays a central role in cellular metabolic homeostasis. The solute carrier family 13 member 5 (SL
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.
In contrast, loss-of-function mutations in SLC13A5 in humans cause a severe disease, EIEE25/DEE25 (early infantile epileptic encephalopathy-25/developmental epileptic encephalopathy-25). ...These beneficial versus detrimental effects of SLC13
In contrast, loss-of-function mutations in SLC13A5 in humans cause a severe disease, EIEE25/DEE25 (early infantile epileptic
33 results