Variety of symptoms of GLUT1 deficiency syndrome in three-generation family (Q91563861)

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23 April 2020

title

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family (English)

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encephalopathy due to GLUT1 deficiency

23 April 2020

main subject

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6

Barbara Steinborn

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23 April 2020

Dorota Hoffman-Zacharska

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Dorota Hoffman-Zacharska

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23 April 2020

Anna Winczewska-Wiktor

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object named as

Anna Winczewska-Wiktor

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23 April 2020

Magdalena Badura-Stronka

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object named as

Magdalena Badura-Stronka

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23 April 2020

author name string

Monika Starczewska

3

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23 April 2020

Izabela Kaczmarek

4

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23 April 2020

publication date

1 April 2020

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23 April 2020

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23 April 2020

volume

106

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23 April 2020

page(s)

107036

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Therapeutic strategies for glucose transporter 1 deficiency syndrome

23 April 2020

cites work

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

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Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

7 January 2021

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Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry

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Paroxysmal eye-head movements in Glut1 deficiency syndrome

7 January 2021

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Paroxysmal ocular movements - an early sign in Glut1 deficiency Syndrome

7 January 2021

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

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

7 January 2021

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Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes

7 January 2021

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

7 January 2021

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

7 January 2021

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Long-term clinical course of Glut1 deficiency syndrome

7 January 2021

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GLUT1 deficiency syndrome into adulthood: a follow-up study

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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GLUT1 deficiency syndrome--2007 update

7 January 2021

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From splitting GLUT1 deficiency syndromes to overlapping phenotypes

7 January 2021

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GLUT1 deficiency syndrome 2013: current state of the art

7 January 2021

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Glut1 deficiency and alternating hemiplegia of childhood

7 January 2021

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The spectrum of movement disorders in Glut-1 deficiency

7 January 2021

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Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

7 January 2021

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The expanding phenotype of GLUT1-deficiency syndrome

7 January 2021

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Paroxysmal movement disorders in GLUT1 deficiency syndrome

7 January 2021

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

7 January 2021

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GLUT1 deficiency without epilepsy: yet another case

7 January 2021

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10.1016/J.YEBEH.2020.107036

7 January 2021

Identifiers

DOI

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23 April 2020

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