Help and Hope for the Glut1 Deficiency Community


Comparative study on glucose transporters expression and activity between stem cell-derived brain microvascular endothelial cells and hCMEC/D3 cells

Stroke mimics add to the phenotypic spectrum of Glut1 deficiency syndrome

Mutations In Disordered Regions Cause Disease By Creating Endocytosis Motifs

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

Early-Life Epilepsies and the Emerging Role of Genetic Testing

Paroxysmal eye–head movements in Glut1 deficiency syndrome.

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.

Near-critical GLUT1 and Neurodegeneration.

EEG findings during “paroxysmal hemiplegia” in a patient with GLUT1-deficiency.

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome.

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.

Paroxysmal Nonepileptic Events in Glut1 Deficiency.

Novel mutation in a patient with late onset GLUT1 deficiency syndrome.

Precision medicine in genetic epilepsies: break of dawn?

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

Alternative ketogenic diets in glucose transporter type 1 deficiency syndrome.

Ketogenic diet prevents neuronal firing increase within the substantia nigra during pentylenetetrazole-induced seizure in rats.

Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome.

Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome.

Evaluation of non-coding variation in GLUT1 deficiency.

Atypical Manifestations in Glut1 Deficiency Syndrome.

Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey.

Clinical Variability of GLUT1DS.

Mechanistic Study of Human Glucose Transport Mediated by GLUT1

Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment

Use of dietary therapies amongst patients with GLUT1 deficiency syndrome

Glucose Transporter 1 Deficiency: A Treatable Cause of Opsoclonus and Epileptic Myoclonus.

Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.

CD46 Activation Regulates miR-150–Mediated Control of GLUT1 Expression and Cytokine Secretion in Human CD4+ T Cells

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

Glut1 Deficiency and Myoclonic Astatic Epilepsy – reassessed

Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease.

Mutational and functional analysis of Glucose transporter I deficiency syndrome.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Ketogenic diets in patients with inherited metabolic disorders.

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

Short-term effects of ketogenic diet on anthropometric parameters, body fat distribution, and inflammatory cytokine production in GLUT1 deficiency syndrome.

PKCs Sweeten Cell Metabolism by Phosphorylation of Glut1.

Outline of metabolic diseases in adult neurology.

GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.

Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.

Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.

Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency

Sporadic and familial glut1ds Italian patients: A wide clinical variability

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan

Association between coenzyme Q 10 and glucose transporter (GLUT1) deficiency

Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study

Transition for patients with epilepsy due to metabolic and mitochondrial disorders

Glucose transporter-1 deficiency syndrome can cause various clinical symptoms

A Cause of Permanent Ketosis: GLUT-1 Deficiency

Triheptanoin for Glucose Transporter Type 1 Deficiency (G1D):  Modulation of Human Ictogenesis, Cerebral Metabolic Rate, and Cognitive Indices by a Food Supplement

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

Epilepsy, energy deficiency and new therapeutic approaches including diet.

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

Refractory Absence Epilepsy and Glut1 Deficiency Syndrome: A New Case Report and Literature Review.

Long-Term Clinical Course of Glut1 Deficiency Syndrome.

Long-term effects of a ketogenic diet on body composition and bone mineralization in GLUT-1 deficiency syndrome: A case series.

Brain glucose transporters: Implications for neurologic disease.

Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome.

Adolescents with clinical type 1 diabetes display reduced red blood cell glucose transporter isoform 1 (GLUT1).

Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review.

Glucose transport in brain – effect of inflammation.

Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet

GLUT1 deficiency syndrome into adulthood: a follow-up study.

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

Child Neurology: Differential diagnosis of a low CSF glucose in children and young adults.

GLUT1 deficiency syndrome: An update.

Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome.

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet

Implications of Aberrant Temperature-Sensitive Glucose Transport Via the Glucose Transporter Deficiency Mutant (GLUT1DS) T295M for the Alternate-Access and Fixed-Site Transport Models

Glut1 Deficiency Syndrome and Novel Ketogenic Diets

Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: A pediatric observation

Glucide metabolism disorders (excluding glycogen myopathies)

Epilepsy in inborn errors of metabolism

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Refractory absence epilepsy associated with GLUT-1 deficiency syndrome

Inborn errors of metabolism in adult neurology

Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet

The SLC2 (GLUT) family of membrane transporters

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

The Many Faces of Glut1 Deficiency Syndrome

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

Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency Syndrome

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

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review