189 related articles for article (PubMed ID: 35328965)
1. Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation.
Pawlik W; Okulewicz P; Pawlik J; Krzywińska-Zdeb E
Int J Environ Res Public Health; 2022 Mar; 19(6):. PubMed ID: 35328965
[TBL] [Abstract][Full Text] [Related]
2. [Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome].
Liu YY; Bao XH; Wang S; Fu N; Liu XY; Song FY; Yang YL; Wu Y; Zhang YH; Wu JX; Jiang YW; Qin J; Wu XR
Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):443-7. PubMed ID: 24120063
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome.
Anurat K; Khongkhatithum C; Tim-Aroon T; Limwongse C; Thampratankul L
Neuropediatrics; 2022 Apr; 53(2):129-132. PubMed ID: 34674205
[TBL] [Abstract][Full Text] [Related]
5. A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
Çolak R; Alkan Özdemir S; Yangın Ergon E; Kağnıcı M; Çalkavur Ş
Balkan Med J; 2017 Dec; 34(6):580-583. PubMed ID: 28443597
[TBL] [Abstract][Full Text] [Related]
6. Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.
Winczewska-Wiktor A; Hoffman-Zacharska D; Starczewska M; Kaczmarek I; Badura-Stronka M; Steinborn B
Epilepsy Behav; 2020 May; 106():107036. PubMed ID: 32247176
[TBL] [Abstract][Full Text] [Related]
7. [Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children: a multicenter clinical study].
Yu LF; Zhang YQ; Duan J; Ni Y; Gong XY; Lu ZY; Liao JX; Lu XP; Shi ZN; Lei MF; Zhong JM; Zha J; Zhou SZ
Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):881-886. PubMed ID: 33120458
[No Abstract] [Full Text] [Related]
8. Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.
Ruiz Herrero J; Cañedo Villarroya E; González Gutiérrez-Solana L; García Alcolea B; Gómez Fernández B; Puerta Macfarland LA; Pedrón-Giner C
Nutrients; 2021 Mar; 13(3):. PubMed ID: 33806661
[TBL] [Abstract][Full Text] [Related]
9. The many faces of Glut1 deficiency syndrome.
Tzadok M; Nissenkorn A; Porper K; Matot I; Marcu S; Anikster Y; Menascu S; Bercovich D; Ben Zeev B
J Child Neurol; 2014 Mar; 29(3):349-59. PubMed ID: 23340081
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.
Fung EL; Ho YY; Hui J; Wong JH; Ng TB; Fong NY; Klepper J; Tsui KW
Brain Dev; 2011 Feb; 33(2):170-3. PubMed ID: 20417043
[TBL] [Abstract][Full Text] [Related]
12. From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M; Vuillaumier-Barrot S; Le Bizec C; Boddaert N; Kaminska A; Lascelles K; de Lonlay P; Cances C; des Portes V; Roubertie A; Doummar D; LeBihannic A; Degos B; de Saint Martin A; Flori E; Pedespan JM; Goldenberg A; Vanhulle C; Bekri S; Roubergue A; Heron B; Cournelle MA; Kuster A; Chenouard A; Loiseau MN; Valayannopoulos V; Chemaly N; Gitiaux C; Seta N; Bahi-Buisson N
Eur J Med Genet; 2015 Sep; 58(9):443-54. PubMed ID: 26193382
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
Ivanova N; Peycheva V; Kamenarova K; Kancheva D; Tsekova I; Aleksandrova I; Hristova D; Litvinenko I; Todorova D; Sarailieva G; Dimova P; Tomov V; Bozhinova V; Mitev V; Kaneva R; Jordanova A
Seizure; 2018 Jan; 54():41-44. PubMed ID: 29223885
[TBL] [Abstract][Full Text] [Related]
15. Therapeutic strategies for glucose transporter 1 deficiency syndrome.
Tang M; Park SH; De Vivo DC; Monani UR
Ann Clin Transl Neurol; 2019 Sep; 6(9):1923-1932. PubMed ID: 31464092
[TBL] [Abstract][Full Text] [Related]
16. Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
Soto-Insuga V; López RG; Losada-Del Pozo R; Rodrigo-Moreno M; Cayuelas EM; Giráldez BG; Díaz-Gómez E; Sánchez-Martín G; García LO; Serratosa JM;
Epilepsy Res; 2019 Aug; 154():39-41. PubMed ID: 31035243
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG; Klepper J; Verbeek MM; Leferink M; Hofste T; van Engelen BG; Wevers RA; Arthur T; Bahi-Buisson N; Ballhausen D; Bekhof J; van Bogaert P; Carrilho I; Chabrol B; Champion MP; Coldwell J; Clayton P; Donner E; Evangeliou A; Ebinger F; Farrell K; Forsyth RJ; de Goede CG; Gross S; Grunewald S; Holthausen H; Jayawant S; Lachlan K; Laugel V; Leppig K; Lim MJ; Mancini G; Marina AD; Martorell L; McMenamin J; Meuwissen ME; Mundy H; Nilsson NO; Panzer A; Poll-The BT; Rauscher C; Rouselle CM; Sandvig I; Scheffner T; Sheridan E; Simpson N; Sykora P; Tomlinson R; Trounce J; Webb D; Weschke B; Scheffer H; Willemsen MA
Brain; 2010 Mar; 133(Pt 3):655-70. PubMed ID: 20129935
[TBL] [Abstract][Full Text] [Related]
19. Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.
Dozières-Puyravel B; Zaman S; Petrou S; François L; Vuillaumier-Barrot S; Mochel F; Gras D; Auvin S
Brain Dev; 2019 Oct; 41(9):808-811. PubMed ID: 31196579
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]