96 related articles for article (PubMed ID: 28407523)
1. GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype.
Ramm-Pettersen A; Nakken KO; Haavardsholm KC; Selmer KK
Epilepsy Behav; 2017 May; 70(Pt A):1-4. PubMed ID: 28407523
[TBL] [Abstract][Full Text] [Related]
2. GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review.
Falsaperla R; Sortino V; Vitaliti G; Privitera GF; Ruggieri M; Fusto G; Pappalardo XG
Neurogenetics; 2024 Apr; 25(2):69-78. PubMed ID: 38190079
[TBL] [Abstract][Full Text] [Related]
3. Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective study.
Wang YY; Zhou YQ; Luo LJ; Wang CJ; Shen N; Li H; Wang JW
World J Pediatr; 2024 May; 20(5):517-524. PubMed ID: 36303089
[TBL] [Abstract][Full Text] [Related]
4. Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.
Giugno A; Falcone E; Fortunato F; Sammarra I; Procopio R; Gagliardi M; Bauleo A; de Stefano L; Martino I; Gambardella A
Eur J Neurol; 2024 May; ():e16325. PubMed ID: 38803061
[TBL] [Abstract][Full Text] [Related]
5. Uncommon use of intermittent glucose administration for infrequent non-epileptic paroxysmal events in GLUT1-DS.
Mortaji S; Dozières-Puyravel B; Geraldes K; Perrot C; Quéméner V; Auvin S
Eur J Paediatr Neurol; 2023 Jul; 45():19-21. PubMed ID: 37244032
[TBL] [Abstract][Full Text] [Related]
6. Is ketogenic diet a 'precision medicine'? Recent developments and future challenges.
Falsaperla R; Sortino V; Striano P; Kluger G; Ramantani G; Ruggieri M;
Eur J Paediatr Neurol; 2024 Jan; 48():13-16. PubMed ID: 37984007
[TBL] [Abstract][Full Text] [Related]
7. Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome.
Kim YS; Kim W; Na JH; Lee YM
Clin Nutr Res; 2023 Jul; 12(3):169-176. PubMed ID: 37593212
[TBL] [Abstract][Full Text] [Related]
8. Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
Jiménez Legido M; Cortés Ledesma C; Bernardino Cuesta B; López Marín L; Cantarín Extremera V; Pérez-Cerdá C; Pérez González B; López Martín E; González Gutiérrez-Solana L
Neurologia (Engl Ed); 2022 Mar; 37(2):91-100. PubMed ID: 31047728
[TBL] [Abstract][Full Text] [Related]
9. Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome.
Olivotto S; Freddi A; Previtali R; Mauri A; Cereda C; De Amicis R; Bertoli S; Doneda C; Veggiotti P
Pediatr Neurol; 2024 Jun; 157():118-126. PubMed ID: 38914025
[TBL] [Abstract][Full Text] [Related]
10. Introduction and modification of the ketogenic diet in an adult patient with glucose transporter 1 deficiency syndrome.
Nabatame S; Kishimoto K; Mano T
Epileptic Disord; 2024 Jun; 26(3):404-406. PubMed ID: 38491976
[No Abstract] [Full Text] [Related]
11. Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N; Leon-Ricardo B; McCall K; Mehinovic E; Engelstad K; Huynh V; Turner TN; Weisenberg J; Thio LL; Hruz P; Williams RSB; De Vivo DC; Petit V; Haller G; Gurnett CA
Ann Clin Transl Neurol; 2023 May; 10(5):787-801. PubMed ID: 37000947
[TBL] [Abstract][Full Text] [Related]
12. Additional data on head circumference in patients with glucose transporter 1 deficiency syndrome: The Glut1 deficiency foundation conference cohort.
van Gemert LA; Pascual JM; Willemsen MA
Eur J Paediatr Neurol; 2023 Jul; 45():55-56. PubMed ID: 37307629
[No Abstract] [Full Text] [Related]
13. GLUT-1 transporter deficiency presenting as hemiplegic migraine in an adult.
Horckmans S; Van Paesschen W
Acta Neurol Belg; 2024 Apr; 124(2):699-700. PubMed ID: 37733158
[No Abstract] [Full Text] [Related]
14. Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F; Gras D; Luton MP; Nizou M; Giovannini D; Delattre C; Aubart M; Barth M; De Saint-Martin A; Doummar D; Essid N; Garros A; Le Camus CH; Hoebeke C; The Tich SN; Perivier M; Rivera S; Rolland A; Roubertie A; Sarret C; Sevin C; Ville D; Sitbon M; Costa JM; Pons R; Garcia-Cazorla A; Vuillaumier S; Petit V; Boespflug-Tanguy O; De Vivo DC;
Neurology; 2023 Jun; 100(23):e2360-e2373. PubMed ID: 37076312
[TBL] [Abstract][Full Text] [Related]
15. Novel insight into GLUT1 deficiency syndrome: screening for emotional and behavioral problems in youths following ketogenic diet.
Varesio C; Zanaboni MP; Pasca L; Provenzi L; Ferraris C; Tagliabue A; Pezzotti E; Carpani A; Veggiotti P; DE Giorgis V
Minerva Pediatr (Torino); 2024 Apr; 76(2):189-196. PubMed ID: 33820407
[TBL] [Abstract][Full Text] [Related]
16. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Klepper J; Akman C; Armeno M; Auvin S; Cervenka M; Cross HJ; De Giorgis V; Della Marina A; Engelstad K; Heussinger N; Kossoff EH; Leen WG; Leiendecker B; Monani UR; Oguni H; Neal E; Pascual JM; Pearson TS; Pons R; Scheffer IE; Veggiotti P; Willemsen M; Zuberi SM; De Vivo DC
Epilepsia Open; 2020 Sep; 5(3):354-365. PubMed ID: 32913944
[TBL] [Abstract][Full Text] [Related]
17. Analysis of dietary fats intake and lipid profile in Chilean patients with glucose transport type 1 deficiency syndrome: similarities and differences with the reviewed literature.
Salazar MF; Leal-Witt MJ; Parga V; Arias C; Cornejo V
Front Nutr; 2024; 11():1390799. PubMed ID: 38818131
[TBL] [Abstract][Full Text] [Related]
18. [The genetics of epilepsy in the clinical practice].
de la Torre A
Medicina (B Aires); 2023 Sep; 83 Suppl 4():9-12. PubMed ID: 37714116
[TBL] [Abstract][Full Text] [Related]
19. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
Srour M; Shimokawa N; Hamdan FF; Nassif C; Poulin C; Al Gazali L; Rosenfeld JA; Koibuchi N; Rouleau GA; Al Shamsi A; Michaud JL
Am J Hum Genet; 2017 May; 100(5):824-830. PubMed ID: 28434495
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]