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3. 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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5. Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic. Hewson S; Brunga L; Ojeda MF; Imhof E; Patel J; Zak M; Donner EJ; Kobayashi J; Salomons GS; Mercimek-Andrews S Can J Neurol Sci; 2018 Jan; 45(1):93-96. PubMed ID: 29144225 [TBL] [Abstract][Full Text] [Related]
6. Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Arsov T; Mullen SA; Damiano JA; Lawrence KM; Huh LL; Nolan M; Young H; Thouin A; Dahl HH; Berkovic SF; Crompton DE; Sadleir LG; Scheffer IE Epilepsia; 2012 Dec; 53(12):e204-7. PubMed ID: 23106342 [TBL] [Abstract][Full Text] [Related]
7. Novel mutation in a patient with late onset GLUT1 deficiency syndrome. Juozapaite S; Praninskiene R; Burnyte B; Ambrozaityte L; Skerliene B Brain Dev; 2017 Apr; 39(4):352-355. PubMed ID: 27927575 [TBL] [Abstract][Full Text] [Related]
8. [Exercise and fasting induced movement disorder in children: think of the GLUT1 deficiency syndrome]. van Kan KEM; Panis B Ned Tijdschr Geneeskd; 2018 Jul; 162():. PubMed ID: 30040286 [TBL] [Abstract][Full Text] [Related]
9. 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]
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12. Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet. Ramm-Pettersen A; Nakken KO; Haavardsholm KC; Selmer KK Epilepsy Behav; 2014 Mar; 32():76-8. PubMed ID: 24508593 [TBL] [Abstract][Full Text] [Related]
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20. [Glucose transporter-1 deficiency syndrome can cause various clinical symptoms]. Larsen J; Stubbings V; Møller RS; Hjalgrim H Ugeskr Laeger; 2013 Dec; 175(50A):V04130248. PubMed ID: 25353328 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]