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9. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Larsen J; Johannesen KM; Ek J; Tang S; Marini C; Blichfeldt S; Kibaek M; von Spiczak S; Weckhuysen S; Frangu M; Neubauer BA; Uldall P; Striano P; Zara F; ; Kleiss R; Simpson M; Muhle H; Nikanorova M; Jepsen B; Tommerup N; Stephani U; Guerrini R; Duno M; Hjalgrim H; Pal D; Helbig I; Møller RS Epilepsia; 2015 Dec; 56(12):e203-8. PubMed ID: 26537434 [TBL] [Abstract][Full Text] [Related]
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16. Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes. Castellotti B; Ragona F; Freri E; Solazzi R; Ciardullo S; Tricomi G; Venerando A; Salis B; Canafoglia L; Villani F; Franceschetti S; Nardocci N; Gellera C; DiFrancesco JC; Granata T J Neurol; 2019 Jun; 266(6):1439-1448. PubMed ID: 30895386 [TBL] [Abstract][Full Text] [Related]