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Items: 1 to 20 of 218

1.

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE.

Neurology. 2010 Aug 3;75(5):432-40. doi: 10.1212/WNL.0b013e3181eb58b4. Epub 2010 Jun 23.

PMID:
20574033
2.

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE.

Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724.

PMID:
19798636
3.

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

Afawi Z, Suls A, Ekstein D, Kivity S, Neufeld MY, Oliver K, De Jonghe P, Korczyn AD, Berkovic SF.

Epilepsia. 2010 Dec;51(12):2466-9. doi: 10.1111/j.1528-1167.2010.02726.x. Epub 2010 Sep 30.

4.

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. doi: 10.1002/ana.23702.

PMID:
23280796
5.

Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

Mullen SA, Marini C, Suls A, Mei D, Della Giustina E, Buti D, Arsov T, Damiano J, Lawrence K, De Jonghe P, Berkovic SF, Scheffer IE, Guerrini R.

Arch Neurol. 2011 Sep;68(9):1152-5. doi: 10.1001/archneurol.2011.102. Epub 2011 May 9.

PMID:
21555602
6.

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. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.

PMID:
20129935
7.

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. doi: 10.1111/epi.12007. Epub 2012 Oct 25.

8.

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H.

Neurology. 2011 Sep 6;77(10):959-64. doi: 10.1212/WNL.0b013e31822e0479. Epub 2011 Aug 10.

PMID:
21832227
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; MAE working group of EuroEPINOMICS RES Consortium, 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. doi: 10.1111/epi.13222. Epub 2015 Nov 5.

10.

Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.

Wolking S, Becker F, Bast T, Wiemer-Kruel A, Mayer T, Lerche H, Weber YG.

J Neurol. 2014 Oct;261(10):1881-6. doi: 10.1007/s00415-014-7433-5. Epub 2014 Jul 15. Review.

PMID:
25022942
11.

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Lebon S, Suarez P, Alija S, Korff CM, Fluss J, Mercati D, Datta AN, Poloni C, Marcoz JP, Campos-Xavier AB, Bonafé L, Roulet-Perez E.

Eur J Paediatr Neurol. 2015 Mar;19(2):170-5. doi: 10.1016/j.ejpn.2014.11.009. Epub 2014 Dec 11.

PMID:
25532859
12.

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium.

Neurology. 2012 Feb 21;78(8):557-62. doi: 10.1212/WNL.0b013e318247ff54. Epub 2012 Jan 25.

PMID:
22282645
13.

The expanding phenotype of GLUT1-deficiency syndrome.

Brockmann K.

Brain Dev. 2009 Aug;31(7):545-52. doi: 10.1016/j.braindev.2009.02.008. Epub 2009 Mar 21. Review.

PMID:
19304421
14.

Milder phenotypes of glucose transporter type 1 deficiency syndrome.

Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T.

Dev Med Child Neurol. 2011 Jul;53(7):664-8. doi: 10.1111/j.1469-8749.2011.03949.x. Epub 2011 Mar 24.

15.

The role of SLC2A1 in early onset and childhood absence epilepsies.

Muhle H, Helbig I, Frøslev TG, Suls A, von Spiczak S, Klitten LL, Dahl HA, Brusgaard K, Neubauer B, De Jonghe P, Tommerup N, Stephani U, Hjalgrim H, Møller RS.

Epilepsy Res. 2013 Jul;105(1-2):229-33. doi: 10.1016/j.eplepsyres.2012.11.004. Epub 2013 Jan 8.

PMID:
23306390
16.

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF.

Brain. 2003 Jan;126(Pt 1):230-40.

PMID:
12477709
17.

Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC.

Curr Neurol Neurosci Rep. 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. Review.

PMID:
23443458
18.

Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.

Singh R, Scheffer IE, Crossland K, Berkovic SF.

Ann Neurol. 1999 Jan;45(1):75-81.

PMID:
9894880
19.

Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.

Roulet-Perez E, Ballhausen D, Bonafé L, Cronel-Ohayon S, Maeder-Ingvar M.

Epilepsia. 2008 Nov;49(11):1955-8. doi: 10.1111/j.1528-1167.2008.01654.x. Epub 2008 May 9.

20.

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W.

Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24.

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