Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

GLUT1 deficiency syndrome--2007 update.

Developmental medicine and child neurology - 1 Sept 2007

Klepper Joerg, Leiendecker Baerbel

Abstract excerpt

GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. The essential biochemical finding is a low glucose concentration in the cerebrospinal fluid (CSF; hypoglycorrhachia; mean 1.7 [SD 0.3mmol/L]) in the setting of normoglycaemia. CSF lactate is normal. Patients present with an early-onset epilepsy resistant to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Developmental Disabilities
Share to Disease Models, Animal
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Glucose Transporter Type 1

Share to Prognosis

Share to Severity of Illness Index

Share to Syndrome

Source

Identifiers

PMID: 17718830
DOI: 10.1111/j.1469-8749.2007.00707.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GLUT1 deficiency syndrome--2007 update.PMID 17718830Read ↗

Glut1 deficiency: when to suspect and how to diagnose?Semantic proximity Read ↗

The glucose transporter type 1 (Glut1) syndromes.Semantic proximity Read ↗

Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic dietSemantic proximity Read ↗

GLUT1 deficiency syndrome: an update.Semantic proximity Read ↗

[Glucose transporter protein type 1 (GLUT-1) deficiency syndrome].Semantic proximity Read ↗

Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndromeSemantic proximity Read ↗

The expanding phenotype of GLUT1-deficiency syndrome.Semantic proximity Read ↗

Phenotypic variability of GLUT1 deficiency: When is necessary to suspect?Semantic proximity Read ↗

GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)Semantic proximity Read ↗

Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).Semantic proximity Read ↗

Novel mutation in a patient with late onset GLUT1 deficiency syndrome.Semantic proximity Read ↗

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.