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

Annals of Neurology

Volumn 66, Issue 3, 2009, Pages 415-419

  Suls, Arvid ^a,b,c   Mullen, Saul A ^d   Weber, Yvonne G ^e   Verhaert, Kristien ^f   Ceulemans, Berten ^c,f,g   Guerrini, Renzo ^h   Wuttke, Thomas V ^e,i,j,k   Salvo Vargas, Alberto ^e   Deprez, Liesbet ^a,b,c   Claes, Lieve R F ^a,b,c   Jordanova, Albena ^a,b,c   Berkovic, Samuel F ^d   Lerche, Holger ^e   De Jonghe, Peter ^a,b,c,e   Scheffer, Ingrid E ^d,l  

^a Department of Molecular Genetics   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e UNIVERSITY OF ULM   (Germany)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g Epilepsy Center for Children and Youth   (Belgium)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

^j MASSACHUSETTS GENERAL HOSPITAL   (United States)

^k HARVARD UNIVERSITY   (United States)

^l AUSTIN HEALTH   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE;

ABSENCE; ADULT; ANIMAL CELL; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; KETOGENIC DIET; LSC2A1 GENE; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; SCHOOL CHILD;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; EPILEPSY, ABSENCE; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; KETOGENIC DIET; MALE; MUTATION, MISSENSE; TREATMENT OUTCOME;

EID: 70350075265     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21724     Document Type: Article

References (20)

1. Loiseau P, Panayiotopoulos CP. ILAE classification: epilepsy syndromes and related conditions - childhood absence epilepsy. Available at: http://www.ilae-epilepsy.org/Visitors/Centre/ctf/syn-frame.html. Accessed 18th January 2009.
2. Hirsch E, Panayiotopoulos CP. Childhood absence epilepsy and related syndromes. In: Roger J, Bureau M, Dravet C, et al, eds. Epileptic syndromes in infancy, childhood and adolescence. 4th ed. Montrouge, France: John Libbey Eurotext, 2005:315-335.
3. Sadleir LG, Farrell K, Smith S, et al. Electroclinical features of absence seizures in childhood absence epilepsy. Neurology 2006;67:413-418. (Pubitemid 44214963)
4. Guerrini R, Sanchez-Carpintero R, Deonna T, et al. Earlyonset absence epilepsy and paroxysmal dyskinesia. Epilepsia 2002;43:1224-1229. (Pubitemid 35176131)
5. De Vivo DC, Trifiletti RR, Jacobson RI, et al. 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.
6. 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. (Pubitemid 28082472)
7. Klepper J, Leiendecker B. GLUT1 deficiency syndrome-2007 update. Dev Med Child Neurol 2007;49:707-716.
8. Leary LD, Wang D, Nordli DR Jr, et al. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 2003;44:701-707. (Pubitemid 36554639)
9. Brockmann K, Wang D, Korenke CG, et al. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 2001;50:476-485. (Pubitemid 32938892)
10. Friedman JR, Thiele EA, Wang D, et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord 2006;21:241-245.
11. 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)
12. Suls A, Dedeken P, Goffin K, et al. Paroxysmal exerciseinduced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008;131:1831-1844. (Pubitemid 351957463)
13. Roulet-Perez E, Ballhausen D, Bonafe L, et al. Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. Epilepsia 2008;49:1955-1958.
14. Mueckler M, Caruso C, Baldwin SA, et al. Sequence and structure of a human glucose transporter. Science 1985;229:941-945. (Pubitemid 16248486)
15. Wong HY, Law PY, Ho YY. Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. Mol Genet Metab 2007;90:193-198.
16. Helbig I, Scheffer IE, Mulley JC, Berkovic SF. Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 2008;7:231-245. (Pubitemid 351215982)
17. Audenaert D, Claes L, Ceulemans B, et al. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 2003;61:854-856. (Pubitemid 37174492)
18. Marini C, Harkin LA, Wallace RH, et al. Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain 2003;126:230-240. (Pubitemid 36068572)
19. Claes L, Del Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68: 1327-1332. (Pubitemid 32510608)
20. Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843-852. (Pubitemid 46410748)