The many faces of Glut1 deficiency syndrome (Q41932713)

14 October 2017

The many faces of Glut1 deficiency syndrome (English)

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encephalopathy due to GLUT1 deficiency

14 October 2017

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Michal Tzadok

1

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14 October 2017

Andreea Nissenkorn

2

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14 October 2017

Keren Porper

3

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14 October 2017

Israel Matot

4

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14 October 2017

Shai Marcu

5

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14 October 2017

Yair Anikster

6

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14 October 2017

Shay Menascu

7

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14 October 2017

Dani Bercovich

8

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14 October 2017

Bruria Ben Zeev

9

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14 October 2017

22 January 2013

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Journal of Child Neurology

14 October 2017

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14 October 2017

29

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14 October 2017

3

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14 October 2017

349-359

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A quantitative overview of glucose dynamics in the gliovascular unit

14 October 2017

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https://api.crossref.org/works/10.1177%2F0883073812471718

Glucose transporter proteins in brain: delivery of glucose to neurons and glia

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073812471718

Sequence and structure of a human glucose transporter

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073812471718

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073812471718

Autosomal dominant transmission of GLUT1 deficiency

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073812471718

Glut1 deficiency: inheritance pattern determined by haploinsufficiency

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073812471718

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/10.1177%2F0883073812471718

GLUT1 deficiency syndrome--2007 update

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073812471718

GLUT‐1 deficiency without epilepsy—an exceptional case

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073812471718

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

GLUT1 deficiency without epilepsy: yet another case

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

The expanding phenotype of GLUT1-deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

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/10.1177%2F0883073812471718

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/10.1177%2F0883073812471718

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

Glut1 deficiency syndrome and erythrocyte glucose uptake assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

Imaging the metabolic footprint of Glut1 deficiency on the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3----p35

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

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/10.1177%2F0883073812471718

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

DHPLC in clinical molecular diagnostic services

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073812471718

Glut1 deficiency: when to suspect and how to diagnose?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812471718

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/10.1177%2F0883073812471718

21 January 2018

Identifiers

DOI

10.1177/0883073812471718

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14 October 2017

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