BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 35633140)

  • 1. 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
    Ann Clin Transl Neurol; 2022 Jul; 9(7):1095-1099. PubMed ID: 35633140
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    Epilepsia; 2020 Nov; 61(11):2474-2485. PubMed ID: 33063863
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
    Hardies K; de Kovel CG; Weckhuysen S; Asselbergh B; Geuens T; Deconinck T; Azmi A; May P; Brilstra E; Becker F; Barisic N; Craiu D; Braun KP; Lal D; Thiele H; Schubert J; Weber Y; van 't Slot R; Nürnberg P; Balling R; Timmerman V; Lerche H; Maudsley S; Helbig I; Suls A; Koeleman BP; De Jonghe P;
    Brain; 2015 Nov; 138(Pt 11):3238-50. PubMed ID: 26384929
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    Pediatr Neurol; 2024 Feb; 151():68-72. PubMed ID: 38113697
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    Am J Hum Genet; 2014 Jul; 95(1):113-20. PubMed ID: 24995870
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Plasma Membrane Na⁺-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy.
    Bhutia YD; Kopel JJ; Lawrence JJ; Neugebauer V; Ganapathy V
    Molecules; 2017 Feb; 22(3):. PubMed ID: 28264506
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Disruption of the sodium-dependent citrate transporter SLC13A5 in mice causes alterations in brain citrate levels and neuronal network excitability in the hippocampus.
    Henke C; Töllner K; van Dijk RM; Miljanovic N; Cordes T; Twele F; Bröer S; Ziesak V; Rohde M; Hauck SM; Vogel C; Welzel L; Schumann T; Willmes DM; Kurzbach A; El-Agroudy NN; Bornstein SR; Schneider SA; Jordan J; Potschka H; Metallo CM; Köhling R; Birkenfeld AL; Löscher W
    Neurobiol Dis; 2020 Sep; 143():105018. PubMed ID: 32682952
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: a case of pharmaco-synergistic heterozygosity.
    Kopel J; Grooms A; Ganapathy V; Clothier J
    Psychiatr Genet; 2021 Feb; 31(1):32-35. PubMed ID: 33290383
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140822
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    Am J Med Genet A; 2021 Jul; 185(7):1972-1980. PubMed ID: 33797191
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay.
    Klotz J; Porter BE; Colas C; Schlessinger A; Pajor AM
    Mol Med; 2016 May; 22():310-21. PubMed ID: 27261973
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SLC13A5 is the second gene associated with Kohlschütter-Tönz 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
    J Med Genet; 2017 Jan; 54(1):54-62. PubMed ID: 27600704
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy.
    Whitney R; Choi E; Jones KC
    Seizure; 2023 Mar; 106():8-13. PubMed ID: 36701889
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.
    Arvio M; Lähdetie J
    Am J Med Genet A; 2020 Nov; 182(11):2671-2674. PubMed ID: 33200910
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
    Milh M; Villeneuve N; Chouchane M; Kaminska A; Laroche C; Barthez MA; Gitiaux C; Bartoli C; Borges-Correia A; Cacciagli P; Mignon-Ravix C; Cuberos H; Chabrol B; Villard L
    Epilepsia; 2011 Oct; 52(10):1828-34. PubMed ID: 21770924
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.
    Weeke LC; Brilstra E; Braun KP; Zonneveld-Huijssoon E; Salomons GS; Koeleman BP; van Gassen KL; van Straaten HL; Craiu D; de Vries LS
    Eur J Paediatr Neurol; 2017 Mar; 21(2):396-403. PubMed ID: 27913086
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy.
    Alhakeem A; Alshibani F; Tabarki B
    Brain Dev; 2018 Oct; 40(9):827-829. PubMed ID: 29895383
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.
    Yang QZ; Spelbrink EM; Nye KL; Hsu ER; Porter BE
    Child Neurol Open; 2020; 7():2329048X20931361. PubMed ID: 32551328
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier.
    Kopel JJ; Bhutia YD; Sivaprakasam S; Ganapathy V
    Biochem J; 2021 Feb; 478(3):463-486. PubMed ID: 33544126
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    Mol Genet Metab; 2017 Aug; 121(4):314-319. PubMed ID: 28673551
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.