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4. 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]
5. 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]
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9. 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]
10. 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]
11. 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]
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16. Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene. Desprairies C; Valence S; Maurey H; Helal SI; Weckhuysen S; Soliman H; Mefford HC; Spentchian M; Héron D; Leguern E; Nava C; Bouilleret V; Moretti R; Mignot C Clin Genet; 2020 Mar; 97(3):477-482. PubMed ID: 31883110 [TBL] [Abstract][Full Text] [Related]
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20. 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] [Next] [New Search]