(Q90745692)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

title

The glucose transporter type 1 (Glut1) syndromes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

author name string

Henner Koch

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Yvonne G Weber

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

publication date

31 July 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

page(s)

90-93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

Glucose transporters in the 21st Century

16 April 2020

cites work

1 reference

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

7 January 2021

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

7 January 2021

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Analysis of transmembrane segment 8 of the GLUT1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility

7 January 2021

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Characterization and expression of human HepG2/erythrocyte glucose-transporter gene

7 January 2021

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

7 January 2021

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

7 January 2021

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ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

7 January 2021

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Paroxysmal dystonia with thalamic lesion in multiple sclerosis.

7 January 2021

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PRRT2 mutations are the major cause of benign familial infantile seizures.

7 January 2021

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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

7 January 2021

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The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

7 January 2021

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Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

7 January 2021

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Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

7 January 2021

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Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

7 January 2021

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Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

7 January 2021

1 reference

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The role of SLC2A1 in early onset and childhood absence epilepsies.

7 January 2021

1 reference

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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

7 January 2021

1 reference

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

7 January 2021

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

7 January 2021

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

7 January 2021

1 reference

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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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2018.06.010

Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature

7 January 2021

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

7 January 2021

1 reference

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Evaluation of non-coding variation in GLUT1 deficiency.

7 January 2021

1 reference

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GLUT1 deficiency with delayed myelination responding to ketogenic diet.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2018.06.010

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2018.06.010

The expanding phenotype of GLUT1-deficiency syndrome

7 January 2021

1 reference

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Imaging the metabolic footprint of Glut1 deficiency on the brain

7 January 2021

1 reference

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

7 January 2021

1 reference

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Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review

7 January 2021

1 reference

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Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

7 January 2021

1 reference

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Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour

7 January 2021

1 reference

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Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

7 January 2021

1 reference

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The neuropharmacology of the ketogenic diet

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2018.06.010

The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2018.06.010

Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2018.06.010

Gene therapy for Glut1-deficient mouse using an adeno-associated virus vector with the human intrinsic GLUT1 promoter.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2018.06.010

10.1016/J.YEBEH.2018.06.010

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30076047%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

1 reference