283 related articles for article (PubMed ID: 23483445)
1. Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.
Klepper J
Neuropediatrics; 2013 Aug; 44(4):235-6. PubMed ID: 23483445
[TBL] [Abstract][Full Text] [Related]
2. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Arsov T; Mullen SA; Rogers S; Phillips AM; Lawrence KM; Damiano JA; Goldberg-Stern H; Afawi Z; Kivity S; Trager C; Petrou S; Berkovic SF; Scheffer IE
Ann Neurol; 2012 Nov; 72(5):807-15. PubMed ID: 23280796
[TBL] [Abstract][Full Text] [Related]
3. Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.
Di Vito L; Licchetta L; Pippucci T; Baldassari S; Stipa C; Mostacci B; Alvisi L; Tinuper P; Bisulli F
Epilepsy Behav; 2018 Feb; 79():169-173. PubMed ID: 29306089
[No Abstract] [Full Text] [Related]
4. Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
Takahashi S; Matsufuji M; Yonee C; Tsuru H; Sano N; Oguni H
Clin Genet; 2017 Jun; 91(6):932-933. PubMed ID: 28124377
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
Willemsen MA; Vissers LE; Verbeek MM; van Bon BW; Geuer S; Gilissen C; Klepper J; Kwint MP; Leen WG; Pennings M; Wevers RA; Veltman JA; Kamsteeg EJ
Eur J Hum Genet; 2017 Jun; 25(6):771-774. PubMed ID: 28378819
[TBL] [Abstract][Full Text] [Related]
8. Mutational and functional analysis of Glucose transporter I deficiency syndrome.
Nakamura S; Osaka H; Muramatsu S; Aoki S; Jimbo EF; Yamagata T
Mol Genet Metab; 2015 Nov; 116(3):157-62. PubMed ID: 26304067
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Jeavons syndrome in a family with GLUT1-deficiency syndrome.
Madaan P; Jauhari P; Chakrabarty B; Gulati S
Seizure; 2019 Oct; 71():158-160. PubMed ID: 31352161
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
Wang D; Kranz-Eble P; De Vivo DC
Hum Mutat; 2000 Sep; 16(3):224-31. PubMed ID: 10980529
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of non-coding variation in GLUT1 deficiency.
Liu YC; Lee JW; Bellows ST; Damiano JA; Mullen SA; Berkovic SF; Bahlo M; Scheffer IE; Hildebrand MS;
Dev Med Child Neurol; 2016 Dec; 58(12):1295-1302. PubMed ID: 27265003
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
