Glut 1 Research

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  Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy.
  Recent scientific publications, 2011-08-29 00:00:00

  
  Conclusions: Five percent of our patients with MAE had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency. Diagnosis of GLUT1 deficiency is a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder.
  

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  A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome.
  Recent scientific publications, 2011-08-29 00:00:00

  
  Interpretation: For the treatment of GLUT1-DS, the MAD is less restrictive, more palatable, and easier to maintain than the conventional ketogenic diet, but its effectiveness was similar. Thus, MAD treatment is promising for individuals with GLUT1-DS and their families.
  

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  T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake
  Recent scientific publications, 2011-08-29 00:00:00

  
  Purpose: Glucose transporter type 1 (Glut1) is expressed in vascular endothelial cells comprising blood–brain barrier. Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose...
  
  

Glut 1 Research part 2

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  SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
  Recent scientific publications, 2011-10-25 00:00:00

  
  For the 12 patients, we identified seven different mutations (three missense, one nonsense, two frameshift and one splice-site) in exons and exon-intron boundaries of the SLC2A1 gene by direct sequencing, of which six were novel mutations. Of the remaining five patients who had no point mutations and underwent investigation by multiplex ligation...
  

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  Glut1 deficiency: When to suspect and how to diagnose?
  Recent scientific publications, 2011-10-25 00:00:00

  
  This review summarizes recent advances in understanding of GLUT1-DS and highlights the diagnostic and therapeutic approach to GLUT1-DS.
  

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  Refractory absence epilepsy associated with GLUT-1 deficiency syndrome
  Recent scientific publications, 2011-08-29 00:00:00

  
  GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy...
  
  

Glut 1 Research part 3

GLUT 1 Resources

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  Gene Reviews: Glucose Transporter Type 1 Deficiency Syndrome
  Recent scientific publications, 2011-09-27 00:00:00

  
  Article last updated on July 7, 2009
  

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  OMIM: GLUT1 DEFICIENCY SYNDROME 1
  Google BlogSearch, 2011-09-27 00:00:00

  
  GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring...
  

Matthew's Friends

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  Matthew's Friends
  Google BlogSearch, 2011-09-15 00:00:00

  
  Dietary treatments for epilepsy

  Check out especially the Meal Planner Software tool:

  http://site.matthewsfriends.org/index.php?page=ekm-mealplanner