GLUT1 deficiency: progress in unraveling its genetic basis

被引:0
|
作者
Van Karnebeek, Clara D. M. [1 ]
机构
[1] Univ British Columbia, BC Childrens Hosp, Ctr Mol Med & Therapeut, Dept Pediat, Vancouver, BC, Canada
来源
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 2016年 / 58卷 / 12期
关键词
D O I
10.1111/dmcn.13220
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
This commentry is on the original article by Liu et al. on pages 1295-1302 of this issue.
引用
收藏
页码:1210 / 1211
页数:2
相关论文
共 50 条
  • [41] Glut1 Deficiency Syndrome - An Emerging Realization of Protean Phenotypes
    Wang, Dong
    Yang, Hong
    Engelstad, Kristin
    Bao, Xinhua
    De Vivo, Darryl
    NEUROLOGY, 2012, 78
  • [42] GLUT1 deficiency syndrome 2013: Current state of the art
    De Giorgis, Valentina
    Veggiotti, Pierangelo
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2013, 22 (10): : 803 - 811
  • [43] GLUT1 deficiency without epilepsy: Yet another case
    Joshi, Charuta
    Greenberg, Cheryl R.
    De Vivo, Darryl
    Wang, Dong
    Chan-Lui, Winifred
    Booth, Frances A.
    JOURNAL OF CHILD NEUROLOGY, 2008, 23 (07) : 832 - 834
  • [44] Glut1 deficiency syndrome and erythrocyte glucose uptake assay
    Yang, Hong
    Wang, Dong
    Engelstad, Kristin
    Bagay, Leslie
    Wei, Ying
    Rotstein, Michael
    Aggarwal, Vimla
    Levy, Brynn
    Ma, Lijiang
    Chung, Wendy K.
    De Vivo, Darryl C.
    ANNALS OF NEUROLOGY, 2011, 70 (06) : 996 - 1005
  • [45] Molecular study of II cases of GLUT1 deficiency syndrome
    Vuillaumier-Barrot, S.
    Bahi-Buisson, N.
    Odent, S.
    Mayer, M.
    Chaigne, D.
    de Saint-Martin, A.
    Flori, E.
    Bekri, S.
    Drouin-Garraud, V
    Raffo, E.
    Chabrol, B.
    Julia, S.
    Le Bizec, C.
    Seta, N.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 44 - 44
  • [46] A Case of Progressive Chorea Resulting From GLUT1 Deficiency
    Kraoua, Ichraf
    Benrhouma, Hanene
    Vuillaumier-Barrot, Sandrine
    Klaa, Hedia
    Ben Youssef-Turki, Ilhem
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2015, 2 (04): : 424 - 425
  • [47] Towards a more palatable treatment for Glut1 deficiency syndrome
    Brockmann, Knut
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2011, 53 (07): : 580 - 581
  • [48] Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
    Dilek Aktas
    Eda G Utine
    Kristin Mrasek
    Anja Weise
    Ferdinand von Eggeling
    Kalbiye Yalaz
    Nicole Posorski
    Nurten Akarsu
    Mehmet Alikasifoglu
    Thomas Liehr
    Ergul Tuncbilek
    Molecular Cytogenetics, 3
  • [49] Failure of ketogenic diet therapy in GLUT1 deficiency syndrome
    Bekker, Yvonne A. C.
    Lambrechts, Danielle A.
    Verhoeven, Judith S.
    van Boxtel, Jessy
    Troost, Caroline
    Kamsteeg, Erik-Jan
    Willemsen, Michel A.
    Braakman, Hilde M. H.
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2019, 23 (03) : 404 - 409
  • [50] GLUT1 deficiency Retinal detrimental effects of gliovascular modulation
    Henry, Matt
    Kitchens, John
    Pascual, Juan M.
    Maldonado, Ramiro S.
    NEUROLOGY-GENETICS, 2020, 6 (04)