Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (Q99351936)

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15 September 2020

title

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (English)

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encephalopathy due to GLUT1 deficiency

15 September 2020

main subject

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1

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Marisa Armeno

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Stéphane Auvin

4

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Ingrid E Scheffer

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5

Mackenzie Cervenka

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11

Eric H Kossoff

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author name string

Cigdem Akman

2

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Helen J Cross

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15 September 2020

Valentina De Giorgis

7

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Adela Della Marina

8

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Kristin Engelstad

9

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Nicole Heussinger

10

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Wilhelmina G Leen

12

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Baerbel Leiendecker

13

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Umrao R Monani

14

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Hirokazu Oguni

15

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Elizabeth Neal

16

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Juan M Pascual

17

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Toni S Pearson

18

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Roser Pons

19

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Pierangelo Veggiotti

21

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15 September 2020

Michél Willemsen

22

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Sameer M Zuberi

23

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15 September 2020

Darryl C De Vivo

24

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publication date

13 August 2020

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15 September 2020

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15 September 2020

volume

5

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15 September 2020

issue

3

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15 September 2020

page(s)

354-365

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

15 September 2020

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Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

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A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood

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Another Case of Glucose Transporter 1 Deficiency Syndrome with Periventricular Calcification, Cataracts, Hemolysis, and Pseudohyperkalemia

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Progressive bone mineral content loss in children with intractable epilepsy treated with the ketogenic diet

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Imaging the metabolic footprint of Glut1 deficiency on the brain

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Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency

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Characteristic proton magnetic resonance spectroscopy in glucose transporter type 1 deficiency syndrome

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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

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Autosomal dominant glut-1 deficiency syndrome and familial epilepsy

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Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene

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Autosomal recessive inheritance of GLUT1 deficiency syndrome

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

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New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin Cornstarch

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