Individualizing treatment approaches for epileptic patients with glucose transporter type1 (GLUT-1) deficiency

International Journal of Molecular Sciences

Volumn 19, Issue 1, 2018, Pages

  Daci, Armond ^a   Bozalija, Adnan ^a   Jashari, Fisnik ^b   Krasniqi, Shaip ^a  

^a UNIVERSITY OF PRISHTINA   (Serbia)

^b UNIVERSITY CLINICAL CENTER OF KOSOVO   (Serbia)

Author keywords

Diet; Epilepsy; Glucose transporter type 1 deficiency; Pharmacogenomic; SLC2A1

Indexed keywords

ANTICONVULSIVE AGENT; GLUCOSE TRANSPORTER 1; SLC2A1 PROTEIN, HUMAN;

DEFICIENCY; EPILEPSY; GENETIC SCREENING; GENETICS; HUMAN; PERSONALIZED MEDICINE; PHARMACOGENETICS; PROCEDURES;

ANTICONVULSANTS; EPILEPSY; GENETIC TESTING; GLUCOSE TRANSPORTER TYPE 1; HUMANS; PHARMACOGENETICS; PRECISION MEDICINE;

EID: 85040337181     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms19010122     Document Type: Review

References (50)

1. Fisher, R.S.; Van Emde Boas, W.; Blume, W.; Elger, C.; Genton, P.; Lee, P.; Engel, J. Epileptic seizures and epilepsy: Definitions proposed by the International League against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE). Epilepsia 2005, 46, 470-472.
2. Thurman, D.J.; Beghi, E.; Begley, C.E.; Berg, A.T.; Buchhalter, J.R.; Ding, D.; Hesdorffer, D.C.; Hauser, W.A.; Kazis, L.; Kobau, R.; et al. Standards for epidemiologic studies and surveillance of epilepsy. Epilepsia 2011, 52, 2-26.
3. Stafstrom, C.E. Mechanisms of action of antiepileptic drugs: The search for synergy. Curr. Opin. Neurol. 2010, 23, 157-163.
4. Staley, K. Molecular mechanisms of epilepsy. Nat. Neurosci. 2015, 18, 367-372.
5. Löscher, W.; Schmidt, D. Epilepsy: Perampanel-New promise for refractory epilepsy? Nat. Rev. Neurol. 2012, 8, 661-662.
6. Grundy, S.M. Metabolic syndrome update. Trends Cardiovasc. Med. 2016, 26, 364-373.
7. Amalou, S.; Gras, D.; Ilea, A.; Greneche, M.-O.; Francois, L.; Bellavoine, V.; Delanoe, C.; Auvin, S. Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome. Dev. Med. Child Neurol. 2016, 58, 1193-1199.
8. Ito, Y.; Oguni, H.; Ito, S.; Oguni, M.; Osawa, M. A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. Dev. Med. Child Neurol. 2011, 53, 658-663.
9. Veggiotti, P.; De Giorgis, V. Dietary treatments and new therapeutic perspective in GLUT1 deficiency syndrome. Curr. Treat. Options Neurol. 2014, 16.
10. De Giorgis, V.; Veggiotti, P. GLUT1 deficiency syndrome 2013: Current state of the art. Seizure 2013, 22, 803-811.
11. Franco, V.; Perucca, E. The pharmacogenomics of epilepsy. Expert Rev. Neurother. 2015, 15, 1161-1170.
12. Kwan, P.; Schachter, S.C.; Brodie, M.J. Drug-Resistant Epilepsy. N. Engl. J. Med. 2011, 365, 919-926.
13. Cavalleri, G.L.; McCormack, M.; Alhusaini, S.; Chaila, E.; Delanty, N. Pharmacogenomics and epilepsy: The road ahead. Pharmacogenomics 2011, 12, 1429-1447.
14. Walker, L.E.; Mirza, N.; Yip, V.L.M.; Marson, A.G.; Pirmohamed, M. Personalized medicine approaches in epilepsy. J. Intern. Med. 2015, 277, 218-234.
15. Balestrini, S.; Sisodiya, S.M. Pharmacogenomics in epilepsy. Neurosci. Lett. 2016.
16. Hodson, R. Precision medicine. Nature 2016, 537, S49.
17. Reif, P.S.; Tsai, M.H.; Helbig, I.; Rosenow, F.; Klein, K.M. Precision medicine in genetic epilepsies: Break of dawn? Expert Rev. Neurother. 2017, 17, 381-392.
18. Tang, M.; Gao, G.; Rueda, C.B.; Yu, H.; Thibodeaux, D.N.; Awano, T.; Engelstad, K.M.; Sanchez-Quintero, M.J.; Yang, H.; Li, F.; et al. Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein. Nat. Commun. 2017, 8.
19. Sands, T.T.; Choi, H. Genetic Testing in Pediatric Epilepsy. Curr. Neurol. Neurosci. Rep. 2017, 17, 45.
20. Weber, Y.G.; Biskup, S.; Helbig, K.L.; Von Spiczak, S.; Lerche, H. The role of genetic testing in epilepsy diagnosis and management. Expert Rev. Mol. Diagn. 2017, 17, 739-750.
21. Weber, Y.G.; Nies, A.T.; Schwab, M.; Lerche, H. Genetic Biomarkers in Epilepsy. Neurotherapeutics 2014, 11, 324-333.
22. Bizec, C.L.; Nicole, S.; Panagiotakaki, E.; Seta, N.; Vuillaumier-Barrot, S. 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. JIMD Rep. 2014, 12, 115-120.
23. Delanty, N.; Cavallleri, G. Genomics-Guided Precise Anti-Epileptic Drug Development. Neurochem. Res. 2017, 42, 2084-2088.
24. Larsen, J.; Johannesen, K.M.; Ek, J.; Tang, S.; Marini, C.; Blichfeldt, S.; Kibæk, M.; Von Spiczak, S.; Weckhuysen, S.; Frangu, M.; et al. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia 2015, 56, e203-e208.
25. Fajardo, M.; Cirillo, M.L. Understanding the Spectrum of SLC2A1-Associated Disorders. Pediatr. Neurobiol. Briefs 2017, 31.
26. Lebon, S.; Suarez, P.; Alija, S.; Korff, C.M.; Fluss, J.; Mercati, D.; Datta, A.N.; Poloni, C.; Marcoz, J.P.; Campos-Xavier, A.B.; et al. When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? Eur. J. Paediatr. Neurol. 2015, 19, 170-175.
27. Hildebrand, M.S.; Damiano, J.A.; Mullen, S.A.; Bellows, S.T.; Oliver, K.L.; Dahl, H.H.M.; Scheffer, I.E.; Berkovic, S.F. Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role. Epilepsia 2014, 55.
28. Mei, D.; Parrini, E.; Marini, C.; Guerrini, R. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol. Diagn. Ther. 2017, 21, 357-373.
29. Reid, C.A.; Mullen, S.; Kim, T.H.; Petrou, S. Epilepsy, energy deficiency and new therapeutic approaches including diet. Pharmacol. Ther. 2014, 144, 192-201.
30. Kim, T.H.; Borges, K.; Petrou, S.; Reid, C.A. Triheptanoin reduces seizure susceptibility in a syndrome-specific mouse model of generalized epilepsy. Epilepsy Res. 2013, 103, 101-105.
31. Vockley, J.; Burton, B.; Berry, G.T.; Longo, N.; Phillips, J.; Sanchez-Valle, A.; Tanpaiboon, P.; Grunewald, S.; Murphy, E.; Humphrey, R.; et al. UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment. Mol. Genet. Metab. 2017.
32. Mochel, F.; Hainque, E.; Gras, D.; Adanyeguh, I.M.; Caillet, S.; Héron, B.; Roubertie, A.; Kaphan, E.; Valabregue, R.; Rinaldi, D.; et al. Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency. J. Neurol. Neurosurg. Psychiatry 2016, 87, 550-553.
33. Pascual, J.M.; Liu, P.; Mao, D.; Kelly, D.I.; Hernandez, A.; Sheng, M.; Good, L.B.; Ma, Q.; Marin-Valencia, I.; Zhang, X.; et al. Triheptanoin for glucose transporter type 1 deficiency (G1D): Modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol. 2014, 71, 1255-1265.
34. Kovac, S.; Abramov, A.Y.;Walker, M.C. Energy depletion in seizures: Anaplerosis as a strategy for future therapies. Neuropharmacology 2013, 69, 96-104.
35. Mochel, F. Triheptanoin for the treatment of brain energy deficit: A 14-year experience. J. Neurosci. Res. 2017, 95, 2236-2243.
36. Tzadok, M.; Nissenkorn, A.; Porper, K.; Matot, I.; Marcu, S.; Anikster, Y.; Menascu, S.; Bercovich, D.; Ben Zeev, B. The many faces of Glut1 deficiency syndrome. J. Child Neurol. 2014, 29, 349-359.
37. Pong, A.W.; Geary, B.R.; Engelstad, K.M.; Natarajan, A.; Yang, H.; De Vivo, D.C. Glucose transporter type 1 deficiency syndrome: Epilepsy phenotypes and outcomes. Epilepsia 2012, 53, 1503-1510.
38. Wang, D.; Pascual, J.M.; De Vivo, D. Glucose Transporter Type 1 Deficiency Syndrome; University ofWashington: Seattle, WA, USA, 2015.
39. Klepper, J.; Flörcken, A.; Fischbarg, J.; Voit, T. Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro. Eur. J. Pediatr. 2003, 162, 84-89.
40. Kass, H.R.;Winesett, S.P.; Bessone, S.K.; Turner, Z.; Kossoff, E.H. Use of dietary therapies amongst patients with GLUT1 deficiency syndrome. Seizure 2016, 35, 83-87.
41. Nakamura, S.; Osaka, H.; Muramatsu, S.; Takino, N.; Ito, M.; Aoki, S.; Jimbo, E.F.; Shimazaki, K.; Onaka, T.; Ohtsuki, S.; et al. Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome. Mol. Genet. Metab. Rep. 2017, 10, 67-74.
42. Striano, P.; Weber, Y.G.; Toliat, M.R.; Schubert, J.; Leu, C.; Chaimana, R.; Baulac, S.; Guerrero, R.; LeGuern, E.; Lehesjoki, A.E.; et al. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 2012, 78, 557-562.
43. Hashimoto, N.; Kagitani-Shimono, K.; Sakai, N.; Otomo, T.; Tominaga, K.; Nabatame, S.; Mogami, Y.; Takahashi, Y.; Imai, K.; Yanagihara, K.; et al. SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome. J. Hum. Genet. 2011, 56, 846-851.
44. Leen, W.G.; Klepper, J.; Verbeek, M.M.; Leferink, M.; Hofste, T.; Van Engelen, B.G.; Wevers, R.A.; Arthur, T.; Bahi-Buisson, N.; Ballhausen, D.; et al. Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder. Brain 2010, 133, 655-670.
45. Mahmoud, S.A.S.; Reavey, E. G404(P) Detection rate of slc2a1 gene variants causing glucose transporter 1 deffiency syndrome in patients with childhood onset epilepsy. Arch. Dis. Child. 2017, 159.
46. Juozapaite, S.; Praninskiene, R.; Burnyte, B.; Ambrozaityte, L.; Skerliene, B. Novel mutation in a patient with late onset GLUT1 deficiency syndrome. Brain Dev. 2017, 39, 352-355.
47. Becker, F.; Schubert, J.; Weckhuysen, S.; Suls, A.; Grüninger, S.; Korn-Merker, E.; Hofmann-Peters, A.; Sperner, J.; Cross, H.; Hallmann, K.; et al. Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet? Epilepsy Res. 2015, 114, 47-51.
48. Ragona, F.; Matricardi, S.; Castellotti, B.; Patrini, M.; Freri, E.; Binelli, S.; Granata, T. Refractory absence epilepsy and Glut1 deficiency syndrome: A new case report and literature review. Neuropediatrics 2014, 45, 328-332.
49. Srour, M.; Shimokawa, N.; Hamdan, F.F.; Nassif, C.; Poulin, C.; Al Gazali, L.; Rosenfeld, J.A.; Koibuchi, N.; Rouleau, G.A.; Al Shamsi, A.; et al. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. Am. J. Hum. Genet. 2017, 100, 824-830.
50. Çolak, R.; Alkan, Ö.S.; Yangın, E.E.; Kağnıcı M.; Çalkavur, Ş. A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: C.734A>C. Balkan Med. J. 2017, 34, 580-583.