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

Atypical Manifestations in Glut1 Deficiency Syndrome.

Journal of child neurology - 1 Aug 2016

De Giorgis V, Varesio C, Baldassari C, Piazza E, Olivotto S, Macasaet J, Balottin U, Veggiotti P

Abstract excerpt

Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive...

Read the complete abstract on PubMed

Topics

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

Share to Carbohydrate Metabolism, Inborn Errors
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Disease Progression

Share to Glucose Transporter Type 1

Share to Infant

Share to Monosaccharide Transport Proteins

Share to Video Recording

Source

Identifiers

PMID: 27250207
DOI: 10.1177/0883073816650033

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

Atypical Manifestations in Glut1 Deficiency Syndrome.PMID 27250207Read ↗

GLUT1 deficiency syndrome: an update.Semantic proximity Read ↗

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.Semantic proximity Read ↗

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

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

Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome.Semantic proximity Read ↗

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

Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment.Semantic proximity Read ↗

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

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

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

Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation.Semantic proximity Read ↗

Genetics of paroxysmal dyskinesias.Semantic proximity Read ↗

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