Glut1 deficiency: when to suspect and how to diagnose?

No abstract is available for this paper.

• Publication year

  2012

• Venue

  European journal of paediatric neurology

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.ejpn.2011.09.005PMID 21962875
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• EEG studies , and novel mutations in two cases of GLUT 1 deficiency syndrome in Japan

  2018cited by this paper
• GLUT1 deficiency syndrome in clinical practice.

  2012cited by this paper
• Early‐onset pure absence epilepsy: a distinct epileptic syndrome

  2011cited by this paper
• Long term outcome in children affected by absence epilepsy with onset before the age of three years.

  2011cited by this paper
• Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.

  2010cited by this paper
• Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

  2010cited by this paper
• GLUT1-ous maximus epilepticus

  2010cited by this paper
• Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

  2010cited by this paper
• Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis.

  2010cited by this paper
• Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

  2010cited by this paper
• Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

  2010cited by this paper
• The expanding phenotype of GLUT1-deficiency syndrome.

  2009cited by this paper
• GLUT1 DEFICIENCY AND ALTERNATING HEMIPLEGIA OF CHILDHOOD

  2009cited by this paper
• Alpha-lipoic acid as a dietary supplement: molecular mechanisms and therapeutic potential.

  2009cited by this paper
• Autosomal recessive inheritance of GLUT1 deficiency syndrome.

  2009cited by this paper
• New GLUT-1 mutation in a child with treatment-resistant epilepsy.

  2009cited by this paper
• GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

  2008cited by this paper
• Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

  2008cited by this paper
• Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet

  2008cited by this paper
• Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome: a successful use of zonisamide for controlling the seizures.

  2008cited by this paper
• GLUT1 Deficiency Without Epilepsy: Yet Another Case

  2008cited by this paper
• Glut‐1 deficiency syndrome masquerading
 as idiopathic generalized epilepsy

  2008cited by this paper
• The Modified Atkins Diet

  2008cited by this paper
• Paroxysmal movement disorders in GLUT1 deficiency syndrome

  2008cited by this paper
• Long‐term health consequences of epilepsy diet treatments

  2008cited by this paper
• GLUT1 deficiency in a child with a movement disorder

  2008cited by this paper
• [GLUT-1 deficiency syndrome or De Vivo disease: a case report].

  2008cited by this paper
• The Ketogenic Diet: One Decade Later

  2007cited by this paper
• Three Japanese patients with glucose transporter type 1 deficiency syndrome.

  2007cited by this paper
• GLUT1 deficiency syndrome – 2007 update

  2007cited by this paper
• A pilot study of a ketogenic diet in patients with Lafora body disease.

  2006cited by this paper
• Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

  2006cited by this paper
• A mouse model for Glut-1 haploinsufficiency.

  2006cited by this paper
• [Lumbar puncture 3].

  2006cited by this paper
• Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

  2006cited by this paper
• Glucose transporter 1, distribution in the brain and in neural disorders: its relationship with transport of neuroactive drugs through the blood-brain barrier.

  2005cited by this paper
• Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.

  2005cited by this paper
• GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

  2005cited by this paper
• Glucose Transporter 1, Distribution in the Brain and in Neural Disorders: Its Relationship With Transport of Neuroactive Drugs Through the Blood-Brain Barrier

  2005cited by this paper
• Glut‐1 deficiency syndrome: Clinical, genetic, and therapeutic aspects

  2005cited by this paper
• Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome

  2004cited by this paper
• Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecules.

  2004cited by this paper
• GLUT1 deficiency and other glucose transporter diseases.

  2004cited by this paper
• Glucose transporter type1 (GLUT-1) deficiency.

  2003cited by this paper
• Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

  2003cited by this paper
• Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro

  2003cited by this paper
• GLUT-1 deficiency without epilepsy—an exceptional case

  2003cited by this paper
• Imaging the metabolic footprint of Glut1 deficiency on the brain

  2002cited by this paper
• Introduction of a ketogenic diet in young infants

  2002cited by this paper
• EEG Features of Glut‐1 Deficiency Syndrome

  2002cited by this paper
• Glucose transporter 1 deficiency syndrome and other glycolytic defects.

  2002cited by this paper
• Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review

  2002cited by this paper
• The antihyperglycemic drug alpha-lipoic acid stimulates glucose uptake via both GLUT4 translocation and GLUT4 activation: potential role of p38 mitogen-activated protein kinase in GLUT4 activation.

  2001cited by this paper
• Hypoglycorrhachia: A simple clue, simply missed

  2001cited by this paper
• Autosomal dominant transmission of GLUT1 deficiency.

  2001cited by this paper
• Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsy

  2001cited by this paper
• Mutational analysis of GLUT1 (SLC2A1) in Glut‐1 Deficiency Syndrome

  2000cited by this paper
• Erythrocyte 3‐O‐methyl‐D‐glucose uptake assay for diagnosis of glucose‐transporter‐protein syndrome

  1999cited by this paper
• Glucose transporter type 1 deficiency: a study of two cases with video-EEG

  1999cited by this paper
• Complications of the Ketogenic Diet

  1998cited by this paper
• GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

  1998cited by this paper
• Differential glycosylation of the GLUT1 glucose transporter in brain capillaries and choroid plexus.

  1994cited by this paper
• Glucose transporter oligomeric structure determines transporter function. Reversible redox-dependent interconversions of tetrameric and dimeric GLUT1.

  1992cited by this paper
• Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

  1991cited by this paper
• Characterization and Expression of Human HepG2/Erythrocyte Glucose-Transporter Gene

  1988cited by this paper
• Sequence and structure of a human glucose transporter.

  1985cited by this paper

• Brain Transcriptomics Reveals Molecular Mechanisms of Cave Adaptation in Triplophysa Loaches

  2025cites this paper
• Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series

  2025cites this paper
• A novel duplication mutation of SLC2A1 gene causing glucose transporter 1 deficiency syndrome.

  2024cites this paper
• Glucose transporter‐1 deficiency syndrome with extreme phenotypic variability in a five‐generation family carrying a novel SLC2A1 variant

  2024cites this paper
• Human-Induced Pluripotent Stem Cell-Based Model of the Blood-Brain at 10 Years: A Retrospective on Past and Current Disease Models.

  2023cites this paper
• Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

  2023cites this paper
• Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation

  2022cites this paper
• Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder

  2022cites this paper
• Abnormal gait and hypoglycorrhachia in a toddler with seizures

  2022cites this paper
• The Dystonias

  2022cites this paper
• An in vitro model of glucose transporter 1 deficiency syndrome at the blood–brain barrier using induced pluripotent stem cells

  2022cites this paper
• Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group.

  2022cites this paper
• A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

  2022cites this paper
• GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)

  2021cites this paper
• Functional Dystonia: Differentiation From Primary Dystonia and Multidisciplinary Treatments

  2021cites this paper
• GLUT1 and COVID-19 deficiency syndrome.

  2021cites this paper
• Functional Movement Disorders

  2021cites this paper
• Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

  2021cites this paper
• SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME

  2020cites this paper
• A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy

  2020cites this paper
• Síndrome de deficiencia de GLUT1 y COVID-19

  2020cites this paper
• Diagnostic yield of capillary compared to venous glucose in the diagnosis of hypoglycorrhachia in children: A prospective, observational study.

  2020cites this paper
• Transient hypoglycorrhachia with paroxysmal abnormal eye movement in early infancy.

  2020cites this paper
• Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia.

  2020cites this paper
• GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association.

  2019cites this paper
• The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan

  2019cites this paper
• Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes

  2019cites this paper
• The Most Common Treatable Neurometabolic Epilepsies in Children

  2018cites this paper
• Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.

  2018cites this paper
• Epidemiology of Cerebellar Diseases and Therapeutic Approaches

  2018cites this paper
• Sex-Specific Life Course Changes in the Neuro-Metabolic Phenotype of Glut3 Null Heterozygous Mice: Ketogenic Diet Ameliorates Electroencephalographic Seizures and Improves Sociability

  2017cites this paper
• A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C

  2017cites this paper
• 4.19 – Obesity and Appetite: Central Control Mechanisms

  2017cites this paper
• Triheptanoin for the treatment of brain energy deficit: A 14‐year experience

  2017cites this paper
• Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy.

  2017cites this paper
• A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

  2017cites this paper
• Glucose Transporters at the Blood-Brain Barrier: Function, Regulation and Gateways for Drug Delivery

  2017cites this paper
• Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

  2016cites this paper
• Glucotransportadores (GLUT): Aspectos clínicos, moleculares y genéticos

  2016cites this paper
• [Glucotransporters: clinical, molecular and genetic aspects].

  2016cites this paper
• GLUT-1 DEFICIENCY SYNDROME: PHENOTYPE – GENOTYPE CORRELATIONS

  2016cites this paper
• Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

  2015cites this paper
• Dystonia: Phenotypes and Genetics

  2015cites this paper
• Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

  2015influential citation
• Three-Dimensional Craniofacial Features of Glut1 Deficiency Syndrome Patients

  2015cites this paper
• Movement Disorders in Glucose Transporter Type 1 Deficiency

  2015cites this paper
• Chorea in Childhood

  2014cites this paper
• Subjective well-being in men following neurosurgery for adult onset epileptic seizures

  2014cites this paper
• The Many Faces of Glut1 Deficiency Syndrome

  2014cites this paper
• A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA)

  2014cites this paper
• The Phenomenology of Functional (Psychogenic) Dystonia

  2014cites this paper
• Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature

  2014cites this paper
• Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome

  2014cites this paper
• Psychogenic paroxysmal movement disorders--clinical features and diagnostic clues.

  2014cites this paper
• Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review

  2014cites this paper
• Long-term effects of a ketogenic diet on body composition and bone mineralization in GLUT-1 deficiency syndrome: a case series.

  2014cites this paper
• Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet.

  2014cites this paper
• Inborn errors of metabolism causing epilepsy

  2013cites this paper
• Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

  2013cites this paper
• Characterization and Modulation of Glucose Uptake in a Human Blood–Brain Barrier Model

  2013cites this paper
• GLUT1 deficiency syndrome 2013: current state of the art.

  2013cites this paper
• Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

  2013cites this paper
• Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: A pediatric observation

  2013cites this paper
• Acute Ataxia in Children: Approach to Clinical Presentation and Role of Additional Investigations

  2012cites this paper
• The genetics of dystonias.

  2012cites this paper