GLUT-1 deficiency syndrome in Norway - yet another piece of the puzzle

Developmental Medicine and Child Neurology

Volumn 55, Issue 5, 2013, Pages 400-401

  Klepper, Joerg ^a  

^a KLINIKUM ASCHAFFENBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; GLUCOSE TRANSPORTER 1;

ARTICLE; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; NORWAY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

CARBOHYDRATE METABOLISM, INBORN ERRORS; DIET, CARBOHYDRATE-RESTRICTED; FEMALE; HUMANS; KETOGENIC DIET; MALE; MONOSACCHARIDE TRANSPORT PROTEINS;

EID: 84876198292     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12104     Document Type: Article

References (4)

1. Klepper J, Leiendecker B. GLUT1 deficiency syndrome - 2007 update. Dev Med Child Neurol 2007; 49: 707-716.
2. Ramm-Pettersen A, Nakken KO, Skogseid IM, et al. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. Dev Med Child Neurol 2013; doi: 10.1111/dmcn.12096.
3. Anheim M, Maillart E, Vuillaumier-Barrot S, et al. Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. J Neurol 2011; 258: 316-7.
4. Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res 2012; 100: 272-7.