Vuillaumier-Barrot S - Search Results

1

Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

Roubergue A, Philibert B, Gautier A, Kuster A, Markowicz K, Billette de Villemeur T, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D. Roubergue A, et al. JIMD Rep. 2015;15:7-12. doi: 10.1007/8904_2013_292. Epub 2014 Feb 16. JIMD Rep. 2015. PMID: 24532324 Free PMC article.

2

Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.

Roubergue A, Apartis E, Mesnage V, Doummar D, Trocello JM, Roze E, Taieb G, De Villemeur TB, Vuillaumier-Barrot S, Vidailhet M, Levy R. Roubergue A, et al. J Inherit Metab Dis. 2011 Apr;34(2):483-8. doi: 10.1007/s10545-010-9264-6. Epub 2011 Jan 13. J Inherit Metab Dis. 2011. PMID: 21229316

3

Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).

Vuillaumier-Barrot S, Panagiotakaki E, Le Bizec C, El Baba C; ENRAHs for SME Consortium; Fontaine B, Arzimanoglou A, Seta N, Nicole S. Vuillaumier-Barrot S, et al. Neuropediatrics. 2010 Dec;41(6):267-9. doi: 10.1055/s-0031-1271767. Epub 2011 Mar 28. Neuropediatrics. 2010. PMID: 21445818

4

The multiple faces of the ATP1A3-related dystonic movement disorder.

Roubergue A, Roze E, Vuillaumier-Barrot S, Fontenille MJ, Méneret A, Vidailhet M, Fontaine B, Doummar D, Philibert B, Riant F, Nicole S. Roubergue A, et al. Mov Disord. 2013 Sep;28(10):1457-9. doi: 10.1002/mds.25396. Epub 2013 Mar 8. Mov Disord. 2013. PMID: 23483595 No abstract available.

5

No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.

Bizec CL, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S. Bizec CL, et al. JIMD Rep. 2014;12:115-20. doi: 10.1007/8904_2013_253. Epub 2013 Sep 4. JIMD Rep. 2014. PMID: 24002817 Free PMC article.

6

A Cause of Permanent Ketosis: GLUT-1 Deficiency.

Chenouard A, Vuillaumier-Barrot S, Seta N, Kuster A. Chenouard A, et al. JIMD Rep. 2015;18:79-83. doi: 10.1007/8904_2014_352. Epub 2014 Sep 26. JIMD Rep. 2015. PMID: 25256448 Free PMC article.

7

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. Hully M, et al. Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17. Eur J Med Genet. 2015. PMID: 26193382

8

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

Habarou F, Bahi-Buisson N, Lebigot E, Pontoizeau C, Abi-Warde MT, Brassier A, Le Quan Sang KH, Broissand C, Vuillaumier-Barrot S, Roubertie A, Boutron A, Ottolenghi C, de Lonlay P. Habarou F, et al. JIMD Rep. 2018;38:53-59. doi: 10.1007/8904_2017_30. Epub 2017 May 17. JIMD Rep. 2018. PMID: 28510035 Free PMC article.

9

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.

Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F. Gras D, et al. Ann Neurol. 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970. Ann Neurol. 2017. PMID: 28556183 Free PMC article.

10

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.

Anheim M, Maillart E, Vuillaumier-Barrot S, Flamand-Rouvière C, Pineau F, Ewenczyk C, Riant F, Apartis E, Roze E. Anheim M, et al. J Neurol. 2011 Feb;258(2):316-7. doi: 10.1007/s00415-010-5702-5. Epub 2010 Sep 10. J Neurol. 2011. PMID: 20830593 No abstract available.

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