Concepedia

Slc2a1 Deficiency

SLC2A1 Deficiency is a genetic metabolic disorder characterized by impaired glucose transport across the blood-brain barrier due to pathogenic variants in the SLC2A1 gene, leading to cerebral energy deficiency and early-onset epilepsy.

71

Publications

4K

Citations

632

Authors

276

Institutions

Publications per year

2017–2026

25

Variants

Glut1 Deficiency SyndromeGlut1-ds

Parents

Publications

71

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

, , +14

Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1

Arvid Suls, Saul A. Mullen, Yvonne Weber et al. · Annals of Neurology · 2009 · 297 citations

, , +17

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

Zhenlin Zhang, Zhenlin Zhang, Weibo Xia et al. · The American Journal of Human Genetics · 2011 · 203 citations · Full text

, , +7

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

Saul A. Mullen, Arvid Suls, Peter De Jonghe et al. · Neurology · 2010 · 159 citations

, , +17

Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome

Dong Wang, Pamela Kranz‐Eble, Darryl C. De Vivo · Human Mutation · 2000 · 154 citations

, , +17

1–5 of 71

Authors

632

  1. SF
    Samuel F. Berkovic

    The University of Melbourne, Australia

    7 publications · 889 citations

    7

    h-index

  2. IE
    Ingrid E. Scheffer

    The University of Melbourne, Australia

    7 publications · 880 citations

    7

    h-index

  3. PD
    Peter De Jonghe

    University of Antwerp, Belgium

    6 publications · 761 citations

    6

    h-index

  4. AS
    Arvid Suls

    University of Antwerp, Belgium

    6 publications · 761 citations

    6

    h-index

  5. SA
    Saul A. Mullen

    The University of Melbourne, Australia

    6 publications · 859 citations

    6

    h-index

1–5 of 632

Institutions

276

  1. Klinikum Aschaffenburg

    A-Burg, Germany

    7 h-index

    8 publications

    605 citations

  2. University of Antwerp

    Antwerp, Belgium

    7 h-index

    20 publications

    3.4K citations

  3. The University of Melbourne

    Melbourne, Australia

    7 h-index

    43 publications

    4K citations

  4. Royal Children's Hospital

    Melbourne, Australia

    7 h-index

    27 publications

    1K citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    6 h-index

    34 publications

    4.1K citations

  6. Radboud University Medical Center

    Nijmegen, The Netherlands

    6 h-index

    33 publications

    4.1K citations

  7. VIB-UAntwerp Center for Molecular Neurology

    Antwerp, Belgium

    6 h-index

    12 publications

    1.3K citations

  8. Austin Health

    Melbourne, Australia

    5 h-index

    33 publications

    2.6K citations

1–8 of 276

Venues

  1. Developmental Medicine & Child Neurology

    DMCN · 4 publications · 143 citations

    4

    h-index

  2. Epilepsia

    4 publications · 279 citations

    4

    h-index

  3. Neuropediatrics

    4 publications · 115 citations

    4

    h-index

  4. Nature Communications

    3 publications · 379 citations

    3

    h-index

  5. Neurology

    3 publications · 375 citations

    3

    h-index

1–5