Evaluation of non-coding variation in GLUT1 deficiency.

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

P2860

Q48229595-D387A23A-678E-4C57-B49F-41FDF2875C21

P2860

Evaluation of non-coding variation in GLUT1 deficiency.

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http://www.wikidata.org/entity/Q47870181

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Evaluation of non-coding variation in GLUT1 deficiency.

@en

Evaluation of non-coding variation in GLUT1 deficiency.

@nl

type

Item

label

Evaluation of non-coding variation in GLUT1 deficiency.

@en

Evaluation of non-coding variation in GLUT1 deficiency.

@nl

prefLabel

Evaluation of non-coding variation in GLUT1 deficiency.

@en

Evaluation of non-coding variation in GLUT1 deficiency.

@nl

P1476

Evaluation of non-coding variation in GLUT1 deficiency.

@en

P2093

Ingrid E Scheffer

http://www.w3.org/2001/XMLSchema#string

Jia Wei Audrey Lee

http://www.w3.org/2001/XMLSchema#string

John A Damiano

http://www.w3.org/2001/XMLSchema#string

Melanie Bahlo

http://www.w3.org/2001/XMLSchema#string

Samuel F Berkovic

http://www.w3.org/2001/XMLSchema#string

Saul A Mullen

http://www.w3.org/2001/XMLSchema#string

Yu-Chi Liu

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P2860

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

Supply and demand in cerebral energy metabolism: the role of nutrient transporters

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome

Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay

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

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

The epigenetic signature of CFTR expression is co-ordinated via chromatin acetylation through a complex intronic element.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation.

P304

1295-1302

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P31

scholarly article

P356

10.1111/DMCN.13163

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Ingrid Scheffer

Michael S. Hildebrand

Susannah T Bellows

Clinical Significance Consensus Meeting Group

P577

2016-06-06T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27265003

http://www.w3.org/2001/XMLSchema#string

Evaluation of non-coding variation in GLUT1 deficiency.

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P2860

P2860

Evaluation of non-coding variation in GLUT1 deficiency.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

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P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698