(Q38084857)

28 August 2017

Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). (English)

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encephalopathy due to GLUT1 deficiency

28 August 2017

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Toni S Pearson

1

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28 August 2017

Cigdem Akman

2

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28 August 2017

Veronica J Hinton

3

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28 August 2017

Kristin Engelstad

4

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28 August 2017

Darryl C De Vivo

5

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28 August 2017

1 April 2013

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Current Neurology and Neuroscience Reports

28 August 2017

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28 August 2017

13

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28 August 2017

4

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28 August 2017

342

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https://scigraph.springernature.com/pub.10.1007/s11910-013-0342-7

28 August 2017

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cites work

Supply and demand in cerebral energy metabolism: the role of nutrient transporters

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

A critical period of brain development: studies of cerebral glucose utilization with PET.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Autosomal recessive inheritance of GLUT1 deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glut1 deficiency: inheritance pattern determined by haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glut1 deficiency syndrome and erythrocyte glucose uptake assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Thalamic metabolic rate predicts EEG alpha power in healthy control subjects but not in depressed patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Simultaneous EEG and fMRI of the alpha rhythm

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

The thalamus as the generator and modulator of EEG alpha rhythm: a combined PET/EEG study with lorazepam challenge in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Imaging the metabolic footprint of Glut1 deficiency on the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

EEG features of glut-1 deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

The spectrum of movement disorders in Glut-1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

GLUT‐1 deficiency without epilepsy—an exceptional case

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

GLUT1 deficiency with delayed myelination responding to ketogenic diet.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

GLUT1 deficiency without epilepsy: yet another case

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Familial paroxysmal dystonia induced by exercise

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Paroxysmal movement disorders in GLUT1 deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glut1 deficiency and alternating hemiplegia of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Allelic variations of glut-1 deficiency syndrome: the chinese experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Brain glucose supply and the syndrome of infantile neuroglycopenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Defect of development of ocular vasculature in Glut1/SLC2A1 knockdown in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Cerebral lactic acidosis correlates with neurological impairment in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

A quantitative overview of glucose dynamics in the gliovascular unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

A mouse model for Glut-1 haploinsufficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

GLUT1 deficiency links nutrient availability and apoptosis during embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

l-Carnitine Supplementation in Childhood Epilepsy: Current Perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0342-7

Thalamic mechanisms of EEG alpha rhythms and their pathological implications.

21 January 2018

1 reference

12 December 2020

Glucose transporter 1 deficiency syndrome and other glycolytic defects.

1 reference

12 December 2020

Typical and atypical forms of paroxysmal choreoathetosis

1 reference

12 December 2020

Cortical and Subcortical Correlates of Electroencephalographic Alpha Rhythm Modulation

1 reference

12 December 2020

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

1 reference

12 December 2020

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

1 reference

12 December 2020

10.1007/S11910-013-0342-7

Identifiers

DOI

1 reference

Dimensions Publication ID

28 August 2017

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1 reference