Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan
Tài liệu tham khảo
Wang, 1993, Glucose Transporter Type 1 Deficiency Syndrome
Klepper, 2002, Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain–a review, Eur J Pediatr, 161, 295, 10.1007/s00431-002-0939-3
Brockmann, 2009, The expanding phenotype of GLUT1-deficiency syndrome, Brain Dev, 31, 545, 10.1016/j.braindev.2009.02.008
De Vivo, 1991, Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay, N Engl J Med, 325, 703, 10.1056/NEJM199109053251006
Verrotti, 2012, Glut1 deficiency: when to suspect and how to diagnose?, Eur J Paediatr Neurol, 16, 3, 10.1016/j.ejpn.2011.09.005
Rotstein, 2010, Glut1 deficiency: inheritance pattern determined by haploinsufficiency, Ann Neurol, 68, 955, 10.1002/ana.22088
Klepper, 2009, Autosomal recessive inheritance of GLUT1 deficiency syndrome, Neuropediatrics, 40, 207, 10.1055/s-0030-1248264
Seidner, 1998, GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier, Nat Genet, 18, 188, 10.1038/ng0298-188
Leen, 2010, Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder, Brain, 133, 655, 10.1093/brain/awp336
Arsov, 2012, Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency, Epilepsia, 53, e204, 10.1111/epi.12007
Gokben, 2011, Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene, Epilepsy Behav, 21, 200, 10.1016/j.yebeh.2011.03.027
Mullen, 2011, Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy, 68, 1152
Perez-Duenas, 2009, Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome, Arch Neurol, 66, 1410, 10.1001/archneurol.2009.236
Roubergue, 2011, Dystonic tremor caused by mutation of the glucose transporter gene GLUT1, J Inherit Metab Dis, 34, 483, 10.1007/s10545-010-9264-6
Schneider, 2009, GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias, Mov Disord, 24, 1684, 10.1002/mds.22507
Suls, 2008, Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1, Brain, 131, 1831, 10.1093/brain/awn113
Klepper, 2012, GLUT1 deficiency syndrome in clinical practice, Epilepsy Res, 100, 272, 10.1016/j.eplepsyres.2011.02.007
Ito, 2005, Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan, Brain Dev, 27, 311, 10.1016/j.braindev.2004.09.010
Fujii, 2011, T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake, Brain Dev, 33, 316, 10.1016/j.braindev.2010.06.012
Hashimoto, 2011, SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome, J Hum Genet, 56, 846, 10.1038/jhg.2011.115
Takahashi, 2008, Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome: a successful use of zonisamide for controlling the seizures, Epilepsy Res, 80, 18, 10.1016/j.eplepsyres.2008.03.010
Klepper, 2007, GLUT1 deficiency with delayed myelination responding to ketogenic diet, Pediatr Neurol, 37, 130, 10.1016/j.pediatrneurol.2007.03.009
Klepper, 2008, Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet, Epilepsia, 49, 46, 10.1111/j.1528-1167.2008.01833.x
Ito, 2011, A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome, Dev Med Child Neurol, 53, 658, 10.1111/j.1469-8749.2011.03961.x
Akman, 2010, Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency, Ann Neurol, 67, 31, 10.1002/ana.21797
Pong, 2012, Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes, Epilepsia, 53, 1503, 10.1111/j.1528-1167.2012.03592.x
Hirano, 2009, Differentiation of myoclonic seizures in epileptic syndromes: a video-polygraphic study of 26 patients, Epilepsia, 50, 1525, 10.1111/j.1528-1167.2008.01859.x
Leen, 2013, Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review, JAMA Neurol, 70, 1440, 10.1001/jamaneurol.2013.3090
Anand, 2011, Milder phenotypes of glucose transporter type 1 deficiency syndrome, Dev Med Child Neurol, 53, 664, 10.1111/j.1469-8749.2011.03949.x
Arsov, 2012, Glucose transporter 1 deficiency in the idiopathic generalized epilepsies, Ann Neurol, 72, 807, 10.1002/ana.23702
Koy, 2011, Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy, Dev Med Child Neurol, 53, 1154, 10.1111/j.1469-8749.2011.04082.x
Striano, 2012, GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy, Neurology, 78, 557, 10.1212/WNL.0b013e318247ff54
Pascual, 2002, Imaging the metabolic footprint of Glut1 deficiency on the brain, Ann Neurol, 52, 458, 10.1002/ana.10311
Klepper, 2013, Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome, Neuropediatrics, 44, 235, 10.1055/s-0033-1336015
Klepper, 2007, GLUT1 deficiency syndrome–2007 update, Dev Med Child Neurol, 49, 707, 10.1111/j.1469-8749.2007.00707.x
Wang, 2008, Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M, Pediatr Res, 64, 538, 10.1203/PDR.0b013e318184d2b5