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Items: 1 to 20 of 123

1.

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review.

Ragona F, Matricardi S, Castellotti B, Patrini M, Freri E, Binelli S, Granata T.

Neuropediatrics. 2014 Oct;45(5):328-32. doi: 10.1055/s-0034-1378130. Epub 2014 Jun 3. Review.

PMID:
24892788
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. Chinese.

PMID:
24120063
3.

Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan.

Ito Y, Gertsen E, Oguni H, Nakayama T, Matsuo M, Funatsuka M, Voit T, Klepper J, Osawa M.

Brain Dev. 2005 Jun;27(4):311-7. Epub 2004 Dec 9.

PMID:
15862198
4.

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.

5.

Sporadic and familial glut1ds Italian patients: A wide clinical variability.

De Giorgis V, Teutonico F, Cereda C, Balottin U, Bianchi M, Giordano L, Olivotto S, Ragona F, Tagliabue A, Zorzi G, Nardocci N, Veggiotti P.

Seizure. 2015 Jan;24:28-32. doi: 10.1016/j.seizure.2014.11.009. Epub 2014 Nov 26.

6.

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. doi: 10.1016/j.braindev.2016.11.007. Epub 2016 Dec 5.

PMID:
27927575
7.

Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.

Byrne S, Kearns J, Carolan R, Mc Menamin J, Klepper J, Webb D.

Epilepsia. 2011 May;52(5):1021-4. doi: 10.1111/j.1528-1167.2011.02989.x. Epub 2011 Mar 2.

8.

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. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17.

PMID:
26193382
9.

GLUT1 deficiency syndrome: an update.

Gras D, Roze E, Caillet S, Méneret A, Doummar D, Billette de Villemeur T, Vidailhet M, Mochel F.

Rev Neurol (Paris). 2014 Feb;170(2):91-9. doi: 10.1016/j.neurol.2013.09.005. Epub 2013 Nov 20. Review.

PMID:
24269118
10.

The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome.

Gumus H, Bayram AK, Kardas F, Canpolat M, Çağlayan AO, Kumandas S, Kendirci M, Per H.

Neuropediatrics. 2015 Oct;46(5):313-20. doi: 10.1055/s-0035-1558435. Epub 2015 Aug 12.

PMID:
26267703
11.

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. doi: 10.1177/0883073812471718. Epub 2013 Jan 22.

PMID:
23340081
12.

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
13.

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.

14.

Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

Mohammad SS, Coman D, Calvert S.

J Paediatr Child Health. 2014 Dec;50(12):1025-6. doi: 10.1111/jpc.12613.

PMID:
25440161
15.

Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

Vieker S, Schmitt J, Längler A, Schmidt W, Klepper J.

Neuropediatrics. 2012 Oct;43(5):275-8. doi: 10.1055/s-0032-1324399. Epub 2012 Sep 13.

PMID:
22976442
16.

Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.

Sen S, Keough K, Gibson J.

Neurology. 2015 Apr 14;84(15):e111-4. doi: 10.1212/WNL.0000000000001467.

PMID:
25870456
17.

Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.

Klepper J.

Neuropediatrics. 2013 Aug;44(4):235-6. doi: 10.1055/s-0033-1336015. Epub 2013 Mar 12.

PMID:
23483445
18.

Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.

Koy A, Assmann B, Klepper J, Mayatepek E.

Dev Med Child Neurol. 2011 Dec;53(12):1154-6. doi: 10.1111/j.1469-8749.2011.04082.x. Epub 2011 Aug 12.

19.

Severe Hypertriglyceridemia in Glut1D on Ketogenic Diet.

Klepper J, Leiendecker B, Heussinger N, Lausch E, Bosch F.

Neuropediatrics. 2016 Apr;47(2):132-6. doi: 10.1055/s-0036-1572413. Epub 2016 Feb 22.

PMID:
26902182
20.

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.

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