参考文献：
[1]De Vivo 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: 703–9.
[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] Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1 [J]. Ann Neurol, 2009, 66(3): 415-419.
[4]Klepper J. GLUT1 deficiency syndrome in clinical practice[J]. Epilepsy Res, 2012, 100(3): 272-277.
[5]Fujii T, Ito Y, Takahashi S, et al. Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey[J]. Brain Dev, 2016, 38(7): 628-637
[6]Kass HR, Winesett SP, Bessone SK, et al. Use of dietary therapies amongst patients with GLUT1 deficiency syndrome[J]. Seizure, 2016, 35: 83-87
[7]Benarroch EE. Brain glucose transporters: implications for neurologic disease[J]. Neurology, 2014, 82(15):1374-1379.
[8]Pearson TS, Akman C, Hinton VJ, et al. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome[J]. Curr Neurol Neurosci Rep, 2013, 13(4): 342
[9]Akman CI, Yu J, Alter A, et al. Diagnosing glucose transporter 1 deficiency at initial presentation facilitates early treatment[J]. J Pediatr, 2016, 171: 220-226
[10]Pellegrin S, Cantalupo G, Opri R, et al. EEG findings during “paroxysmal hemiplegia” in a patient with GLUT1deficiency[J]. Eur J Paediatr Neurol, 2017, 21(3): 580-582.
[11]Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome[J]. Brain Dev, 2009, 31(7): 545-552
[12]Pearson TS, Pons R, Engelstad K, et al. Paroxysmal eye-head movements in GLUT1 deficiency syndrome[J]. Neurology, 2017, 88(17): 1666-1673.
[13]Pons R, Collins A, Rotstein M, et al. The spectrum of movement disorders in Glut-1 deficiency[J]. Mov Disord, 2010, 25(3): 275281.
[14]Arsov T, Mullen SA, Rogers S, et al. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol. 2012; 72:807-815.
[15] Wang D, Pascual JM, Yang H, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005;57: 111-118.
[16] 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(pt 3):655-670.
[17] Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. GLUT1 deficiency syndrome into adulthood: a follow-up study. J Neurol. 2014;261:589-599.
[18] Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia. 2003;44:701-707
[19] Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013;13:342.
[20]Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia. 2012;53:1503-1510.
[21] 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(pt 7): 1831-1844.
[22] Veggiotti P, De Giorgis V. Dietary treatments and new therapeutic perspective in GLUT1 deficiency syndrome. Curr Treat Options Neurol. 2014;16:291.
[23] De Giorgis V, Teutonico F, Cereda C, et al. Sporadic and familial GLUT1DS Italian patients: a wide clinical variability. Seizure. 2015;24:28-32.
[24] De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure. 2013;22:803-811.
[25] Alter AS, Engelstad K, Hinton VJ, et al. Long-term clinical course of Glut1 deficiency syndrome. J Child Neurol. 2015; 30:160-169.
[25] 姬辛娜,徐翠娟,高志杰,等葡萄糖转运子1缺陷综合征运动障碍特点和诊疗分析[ J].中国当代儿科杂志,2018( 3): 209-213。
[26]王浩,张继要,罗强 .葡萄糖转运体1缺陷综合征1例 [J].中国儿童保健杂志,2019:123-125.
[27]Víctor Soto-Insuga,Rosa Guerrero López,Rebeca Losada-Del Pozo,María Rodrigo-Moreno,Elena Martínez Cayuelas,et.al.Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features[J]. Epilepsy Research,2019,154.