GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

Neurology

Volumn 78, Issue 8, 2012, Pages 557-562

  Striano, P ^a   Weber, Y G ^b   Toliat, M R ^c   Schubert, J ^b   Leu, C ^c   Chaimana, R ^c   Baulac, S ^d   Guerrero, R ^e,g,h   LeGuern, E ^d   Lehesjoki, A E ^f   Polvi, A ^f   Robbiano, A ^a   Serratosa, J M ^e   Guerrini, R ^e,g,h   Nurnberg P ^c   Sander, T ^c   Zara, F ^a   Lerche, H ^b   Marini, C ^h  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d SORBONNE UNIVERSITÉ   (France)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^f UNIVERSITY OF HELSINKI   (Finland)

^g DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^h UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; GLUCOSE TRANSPORTER 1;

ABSENCE; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; ELECTROENCEPHALOGRAM; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC AND FAMILIAL DISORDERS; GENETIC ASSOCIATION; GENETIC CODE; GLUCOSE TRANSPORT; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MYOCLONUS EPILEPSY; NEUROIMAGING; OOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; WILD TYPE; XENOPUS LAEVIS;

EID: 84858120198     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318247ff54     Document Type: Article

References (13)

1. DeVivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991;325:703-709.
2. Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998;18:188 -191.
3. Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008;118:2157-2168. (Pubitemid 351872334)
4. Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008;131:1831-1844. (Pubitemid 351957463)
5. Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009;66:415- 419.
6. Roulet-Perez E, Ballhausen D, Bonafë L, Cronel-Ohayon S, Maeder-Ingvar M. Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. Epilepsia 2008;49:1955-1958.
7. Nickels K, Wirrell E. GLUT1-ous maximus epilepticus: the expanding phenotype of GLUT-1 mutations and epilepsy. Neurology 2010;75:390 -391.
8. Mullen SA, Suls A, De JP, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010;75:432-440.
9. Weber YG, Lerche H. Genetic mechanisms in idiopathic epilepsies. Dev Med Child Neurol 2008;50:648-654.
10. Panayiotopoulos CP. Typical absence seizures and related epileptic syndromes: assessment of current state and directions for future research. Epilepsia 2008;49:2131-2139.
11. Meeren H, van Luijtelaar G, Lopes da Silva F, Coenen A. Evolving concepts on the pathophysiology of absence seizures: the cortical focus theory. Arch Neurol 2005;62:371-376.
12. Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010;133:655- 670.
13. Neal EG, Chaffe H, Schwartz RH, et al. The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial. Lancet Neurol 2008;8:500 -506.