Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency (Q57905561)

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16 February 2020

title

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

1 reference

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early onset absence epilepsy

16 February 2020

main subject

1 reference

based on heuristic

inferred from title

encephalopathy due to GLUT1 deficiency

1 reference

10

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Douglas E Crompton

11

1 reference

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Ingrid Scheffer

13

1 reference

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12

Lynette G Sadleir

1 reference

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1

Todor Arsov

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author name string

Melinda Nolan

6

1 reference

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16 February 2020

Helen Young

7

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Anaïs Thouin

8

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Saul A Mullen

2

1 reference

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16 February 2020

John A Damiano

3

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16 February 2020

Kate M Lawrence

4

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16 February 2020

Linda L Huh

5

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Hans-Henrik M Dahl

9

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publication date

25 October 2012

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16 February 2020

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16 February 2020

volume

53

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issue

12

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page(s)

e204-7

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Glut1 deficiency: CSF glucose. How low is too low?

16 February 2020

cites work

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

21 January 2018

1 reference

GLUT1 deficiency without epilepsy: yet another case

21 January 2018

1 reference

GLUT1 deficiency syndrome--2007 update

21 January 2018

1 reference

Autosomal recessive inheritance of GLUT1 deficiency syndrome

21 January 2018

1 reference

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

21 January 2018

1 reference

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

21 January 2018

1 reference

Glut1 deficiency and alternating hemiplegia of childhood

21 January 2018

1 reference

Glut1 deficiency: inheritance pattern determined by haploinsufficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.12007

1 reference

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16 February 2020

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