Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

[1]  R. Wevers,et al.  Lactate infusion as therapeutical intervention: a scoping review , 2022, European Journal of Pediatrics.

[2]  N. Møller,et al.  Oral lactate slows gastric emptying and suppresses appetite in young males. , 2021, Clinical nutrition.

[3]  I. Scheffer,et al.  Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group , 2020, Epilepsia open.

[4]  A. Tagliabue,et al.  Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome , 2019, Brain and behavior.

[5]  Pierre J. Magistretti,et al.  Lactate in the brain: from metabolic end-product to signalling molecule , 2018, Nature Reviews Neuroscience.

[6]  Zhe-yu Chen,et al.  Direct Neuronal Glucose Uptake Is Required for Contextual Fear Acquisition in the Dorsal Hippocampus , 2017, Front. Mol. Neurosci..

[7]  C. Rae,et al.  β-Hydroxybutyrate Boosts Mitochondrial and Neuronal Metabolism but is not Preferred Over Glucose Under Activated Conditions , 2017, Neurochemical Research.

[8]  S. Ueno,et al.  Developmental quotient to estimate intelligence in autism spectrum disorder , 2016, Pediatrics international : official journal of the Japan Pediatric Society.

[9]  O. Iwata,et al.  Developmental assessment of VLBW infants at 18months of age: A comparison study between KSPD and Bayley III , 2016, Brain and Development.

[10]  M. Verbeek,et al.  Hourly analysis of cerebrospinal fluid glucose shows large diurnal fluctuations , 2016, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

[11]  S. Dimauro,et al.  CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome. , 2015, JIMD reports.

[12]  N. Boddaert,et al.  From splitting GLUT1 deficiency syndromes to overlapping phenotypes. , 2015, European journal of medical genetics.

[13]  K. Kagitani-Shimono,et al.  Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan , 2015, Brain and Development.

[14]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[15]  K. Engelstad,et al.  Long-Term Clinical Course of Glut1 Deficiency Syndrome , 2015, Journal of child neurology.

[16]  E. Benarroch.  Brain glucose transporters , 2014, Neurology.

[17]  I. Skogseid,et al.  Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study , 2013, Developmental medicine and child neurology.

[18]  L. Good,et al.  Heptanoate as a Neural Fuel: Energetic and Neurotransmitter Precursors in Normal and Glucose Transporter I-Deficient (G1D) Brain , 2013, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

[19]  Ron A. Wevers,et al.  Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice , 2012, PloS one.

[20]  S. Koh,et al.  Usefulness of the Scale for the Assessment and Rating of Ataxia (SARA) in Ataxic Stroke Patients , 2011, Annals of rehabilitation medicine.

[21]  K. Kagitani-Shimono,et al.  SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome , 2011, Journal of Human Genetics.

[22]  I. Scheffer,et al.  Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency , 2010, Neurology.

[23]  B. Weschke,et al.  Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. , 2010, Brain : a journal of neurology.

[24]  I. Scheffer,et al.  Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1 , 2009, Annals of neurology.

[25]  J. Hardy,et al.  GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias , 2009, Movement disorders : official journal of the Movement Disorder Society.

[26]  B. Castellotti,et al.  Paroxysmal movement disorders in GLUT1 deficiency syndrome , 2008, Neurology.

[27]  W. van Paesschen,et al.  Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 , 2008, Brain : a journal of neurology.

[28]  F. Mottaghy,et al.  GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. , 2008, The Journal of clinical investigation.

[29]  N. Logothetis,et al.  Dynamics of lactate concentration and blood oxygen level‐dependent effect in the human visual cortex during repeated identical stimuli , 2007, Journal of neuroscience research.

[30]  J. Klepper,et al.  GLUT1 deficiency syndrome – 2007 update , 2007, Developmental medicine and child neurology.

[31]  G. Dienel,et al.  A glycogen phosphorylase inhibitor selectively enhances local rates of glucose utilization in brain during sensory stimulation of conscious rats: implications for glycogen turnover , 2007, Journal of neurochemistry.

[32]  S. Vannucci,et al.  Supply and Demand in Cerebral Energy Metabolism: The Role of Nutrient Transporters , 2007, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

[33]  Lippincott Williams Wilkins,et al.  Scale for the assessment and rating of ataxia: Development of a new clinical scale , 2006, Neurology.

[34]  A. Durr,et al.  Scale for the Assessment and Rating of Ataxia (SARA) , 2010 .

[35]  A. Nake,et al.  Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. , 2005, Neuropediatrics.

[36]  Hong Yang,et al.  Glut‐1 deficiency syndrome: Clinical, genetic, and therapeutic aspects , 2005, Annals of neurology.

[37]  Hong Yang,et al.  GLUT1 deficiency and other glucose transporter diseases. , 2004, European journal of endocrinology.

[38]  T. Voit,et al.  Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. , 2004, Prostaglandins, leukotrienes, and essential fatty acids.

[39]  R. V. Van Heertum,et al.  Imaging the metabolic footprint of Glut1 deficiency on the brain , 2002, Annals of neurology.

[40]  T. Voit,et al.  Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review , 2002, European Journal of Pediatrics.

[41]  Jullie W Pan,et al.  Human Brain β-Hydroxybutyrate and Lactate Increase in Fasting-Induced Ketosis , 2000 .

[42]  Dong Wang,et al.  Mutational analysis of GLUT1 (SLC2A1) in Glut‐1 Deficiency Syndrome , 2000, Human mutation.

[43]  S. Harik,et al.  Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. , 1991, The New England journal of medicine.

[44]  Vicente Ferreira de Lucena,et al.  Evaluating the spasticity level during the rehabilitation process: a survey of traditional methods and a new trend , 2019, EUSPN/ICTH.

[45]  R. Wevers,et al.  Lactate and its many faces. , 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[46]  T. Voit,et al.  Autosomal dominant transmission of GLUT1 deficiency. , 2001, Human molecular genetics.