Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

American Journal of Human Genetics

Volumn 100, Issue 5, 2017, Pages 824-830

  Srour, Myriam ^a   Shimokawa, Noriaki ^b,c   Hamdan, Fadi F ^d   Nassif, Christina ^d   Poulin, Chantal ^a   Al Gazali, Lihadh ^e   Rosenfeld, Jill A ^f   Koibuchi, Noriyuki ^b   Rouleau, Guy A ^a   Al Shamsi, Aisha ^g   Michaud, Jacques L ^d,h  

^a MCGILL UNIVERSITY   (Canada)

^b GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c TAKASAKI UNIVERSITY OF HEALTH AND WELFARE   (Japan)

^d UNIVERSITY OF MONTREAL   (Canada)

^e UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g TAWAM HOSPITAL   (United Arab Emirates)

^h UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

autism; cerebral glucose transporter; DNB5; epilepsy; intellectual disability; PAST A; SLC45A1

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER SLC45A1; UNCLASSIFIED DRUG; SLC45A1 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTISM; BLINKING; CASE REPORT; CHILD; COMPULSION; COS-7 CELL LINE; DEVELOPMENTAL DELAY; EPIGASTRIC DISCOMFORT; EPILEPSY; FACIES; FEBRILE CONVULSION; FEMALE; FEVER; FOCAL EPILEPSY; FRONTAL LOBE; GENETIC VARIABILITY; GENETIC VARIATION; GLUCOSE TRANSPORT; HEMANGIOMA; HUMAN; INFANT; INTEGRATION; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; KETOGENIC DIET; KIDNEY CALCIFICATION; LANGUAGE DEVELOPMENT; LIP MALFORMATION; MALE; MISSENSE MUTATION; OBSESSIVE COMPULSIVE DISORDER; PHENOTYPE; PHILTRUM; PHOTOSENSITIVITY; PRIORITY JOURNAL; SANGER SEQUENCING; SCHOOL CHILD; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL INTERACTION; TEMPORAL LOBE; TIC; TONIC CLONIC SEIZURE; WHOLE EXOME SEQUENCING; YOUNG ADULT; ANIMAL; CHLOROCEBUS AETHIOPS; COS CELL LINE; GENETICS; HOMOZYGOTE; MUTATION; PEDIGREE;

ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; EPILEPSY; FEMALE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HOMOZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 85018543537     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.03.009     Document Type: Article

References (16)

1. 1 Chen, L.Q., Cheung, L.S., Feng, L., Tanner, W., Frommer, W.B., Transport of sugars. Annu. Rev. Biochem. 84 (2015), 865–894.
2. 2 De Vivo, D.C., Trifiletti, R.R., Jacobson, R.I., Ronen, G.M., Behmand, R.A., Harik, S.I., Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N. Engl. J. Med. 325 (1991), 703–709.
3. 3 Shimokawa, N., Okada, J., Haglund, K., Dikic, I., Koibuchi, N., Miura, M., Past-A, a novel proton-associated sugar transporter, regulates glucose homeostasis in the brain. J. Neurosci. 22 (2002), 9160–9165.
4. 4 Leen, W.G., Wevers, R.A., Kamsteeg, E.J., Scheffer, H., Verbeek, M.M., Willemsen, M.A., Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. JAMA Neurol. 70 (2013), 1440–1444.
5. 5 Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J., Sham, P.C., PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81 (2007), 559–575.
6. 6 Yang, Y., Muzny, D.M., Reid, J.G., Bainbridge, M.N., Willis, A., Ward, P.A., Braxton, A., Beuten, J., Xia, F., Niu, Z., et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369 (2013), 1502–1511.
7. 7 Amler, L.C., Bauer, A., Corvi, R., Dihlmann, S., Praml, C., Cavenee, W.K., Schwab, M., Hampton, G.M., Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. Genomics 64 (2000), 195–202.
8. 8 Meyer, H., Vitavska, O., Wieczorek, H., Identification of an animal sucrose transporter. J. Cell Sci. 124 (2011), 1984–1991.
9. 9 Simpson, I.A., Yver, D.R., Hissin, P.J., Wardzala, L.J., Karnieli, E., Salans, L.B., Cushman, S.W., Insulin-stimulated translocation of glucose transporters in the isolated rat adipose cells: characterization of subcellular fractions. Biochim. Biophys. Acta 763 (1983), 393–407.
10. 10 Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H.E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., et al. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol. Psychiatry 22 (2017), 615–624.
11. 11 Epi, K.C.E.e., Epi, K.C., Epi4K Consortium. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am. J. Hum. Genet. 99 (2016), 287–298.
12. 12 Seidner, G., Alvarez, M.G., Yeh, J.I., O'Driscoll, K.R., Klepper, J., Stump, T.S., Wang, D., Spinner, N.B., Birnbaum, M.J., De Vivo, D.C., GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat. Genet. 18 (1998), 188–191.
13. 13 Klepper, J., GLUT1 deficiency syndrome in clinical practice. Epilepsy Res. 100 (2012), 272–277.
14. 14 Yang, H., Wang, D., Engelstad, K., Bagay, L., Wei, Y., Rotstein, M., Aggarwal, V., Levy, B., Ma, L., Chung, W.K., De Vivo, D.C., Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann. Neurol. 70 (2011), 996–1005.
15. 15 De Vivo, D.C., Leary, L., Wang, D., Glucose transporter 1 deficiency syndrome and other glycolytic defects. J. Child Neurol. 17:Suppl 3 (2002), S15–S23.
16. 16 Larsen, J., Johannesen, K.M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibaek, M., von Spiczak, S., Weckhuysen, S., Frangu, M., et al., MAE working group of EuroEPINOMICS RES Consortium. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia 56 (2015), e203–e208.