Atypical Manifestations in Glut1 Deficiency Syndrome (Q38850454)

7 September 2017

title

Atypical Manifestations in Glut1 Deficiency Syndrome (English)

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encephalopathy due to GLUT1 deficiency

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main subject

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V De Giorgis

1

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7 September 2017

C Varesio

2

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C Baldassari

3

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E Piazza

4

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7 September 2017

S Olivotto

5

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J Macasaet

6

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U Balottin

7

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P Veggiotti

8

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publication date

1 June 2016

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Journal of Child Neurology

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published in

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7 September 2017

volume

31

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7 September 2017

issue

9

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7 September 2017

page(s)

1174-1180

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

7 September 2017

cites work

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https://api.crossref.org/works/10.1177/0883073816650033

Sporadic and familial glut1ds Italian patients: A wide clinical variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

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/10.1177/0883073816650033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

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/10.1177/0883073816650033

GLUT1 deficiency syndrome into adulthood: a follow-up study

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

GLUT1 deficiency syndrome 2013: current state of the art

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Glut1 deficiency: Inheritance pattern determined by haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

GLUT1 deficiency syndrome--2007 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

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/10.1177/0883073816650033

Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Paroxysmal exercise‐induced dystonia: Eight new sporadic cases and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

21 January 2018

Paroxysmal dyskinesias

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https://api.crossref.org/works/10.1177/0883073816650033

Glyoxalase 1 and its substrate methylglyoxal are novel regulators of seizure susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Hypoxic-ischemic damage of the basal ganglia. Case reports and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

The spectrum of movement disorders in Glut-1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

De Vivo disease. GLUT-1 deficiency syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177/0883073816650033

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/10.1177/0883073816650033

21 January 2018

Identifiers

DOI

10.1177/0883073816650033

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7 September 2017

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