Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells

被引：1
|
作者：
Soliani, Luca [1 ,2 ]
Martorell, Loreto [3 ,4 ]
Yubero, Delia [3 ]
Verges, Carla [5 ]
Petit, Vincent [6 ]
Ortigoza-Escobar, Juan Dario [7 ,8 ]
机构：
[1] IRCCS, Ist Sci Neurol Bologna, UOC Neuropsichiatria Pediat, Bologna, Italy
[2] Univ Bologna, Dipartimento Sci Med & Chirurg DIMEC, Bologna, Italy
[3] Hosp St Joan de Deu Barcelona, Dept Genet & Mol Med IPER, Inst Recerca, Barcelona, Spain
[4] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBER, Madrid, Spain
[5] Hosp St Joan de Deu Barcelona, Rehabil Dept, Inst Recerca, Barcelona, Spain
[6] Metafora Biosyst, Paris, France
[7] Hosp St Joan de Deu Barcelona, Pediat Neurol Dept, Movement Disorders Unit, Inst Recerca, Passeig St Joan de Deu 2, Barcelona 08950, Spain
[8] European Reference Network Rare Neurol Dis ERN RN, Tubingen, Germany
来源：
MOVEMENT DISORDERS CLINICAL PRACTICE | 2022年 / 9卷 / 02期
关键词：
GLUT1; paroxysmal dyskinesia;
D O I：
10.1002/mdc3.13391
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：252 / 254
页数：3
相关论文
共 50 条
  • [41] Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency
    Afawi, Zaid
    Suls, Arvid
    Ekstein, Dana
    Kivity, Sara
    Neufeld, Miriam Y.
    Oliver, Karen
    De Jonghe, Peter
    Korczyn, Amos D.
    Berkovic, Samuel F.
    EPILEPSIA, 2010, 51 (12) : 2466 - 2469
  • [42] GLUT1 (SLC2A1) mutations are a major cause of familial exercise-induced paroxysmal dyskinesia and epilepsy
    Suls, Arvid
    Dedeken, P.
    Claes, L.
    Van Esch, H.
    Deprez, L.
    Audenaert, D.
    Van Dyck, T.
    Goossens, D.
    Del-Favero, J.
    De Jonghe, P.
    Van Paesschen, W.
    EPILEPSIA, 2007, 48 : 389 - 389
  • [43] Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review
    Gburek-Augustat, Janina
    Heinze, Anja
    Abou Jamra, Rami
    Merkenschlager, Andreas
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2020, 7 (08): : 965 - 970
  • [44] Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
    Suls, Arvid
    Dedeken, Peter
    Goffin, Karolien
    Van Esch, Hilde
    Dupont, Patrick
    Cassiman, David
    Kempfle, Judith
    Wuttke, Thomas V.
    Weber, Yvonne
    Lerche, Holger
    Afawi, Zaid
    Vandenberghe, Wim
    Korczyn, Amos D.
    Berkovic, Samuel F.
    Ekstein, Dana
    Kivity, Sara
    Ryvlin, Philippe
    Claes, Lieve R. F.
    Deprez, Liesbet
    Maljevic, Snezana
    Vargas, Alberto
    Van Dyck, Tine
    Goossens, Dirk
    Del-Favero, Jurgen
    Van Laere, Koen
    De Jonghe, Peter
    Paesschen, WimVan
    BRAIN, 2008, 131 : 1831 - 1844
  • [45] Centrifugal and chromatographic analyses of tryptophan and tyrosine uptake by red blood cells and GLUT1 proteoliposomes with permeability estimates and observations on dihydrocytochalasin B
    Hägglund, CL
    Lundahl, P
    JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS, 2003, 55 (02): : 127 - 140
  • [46] Does protein disulfide isomerase interact with band 3 and GLUT1 and promote the efflux of NO-equivalents from red blood cells?
    Kallakunta, Vasantha
    Mutus, Bulent
    NITRIC OXIDE-BIOLOGY AND CHEMISTRY, 2009, 20 : S40 - S40
  • [47] Immobilization of human red cells in gel particles for chromatographic activity studies of the glucose transporter Glut1
    Zeng, CM
    Zhang, YX
    Lu, LL
    Brekkan, E
    Lundqvist, A
    Lundahl, P
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES, 1997, 1325 (01): : 91 - 98
  • [48] Adolescents with clinical type 1 diabetes display reduced red blood cell glucose transporter isoform 1 (GLUT1)
    Garg, Meena
    Thamotharan, Manikkavasagar
    Becker, Dorothy J.
    Devaskar, Sherin U.
    PEDIATRIC DIABETES, 2014, 15 (07) : 511 - 518
  • [49] Red blood cell membrane GLUT1 glucose transporter is downregulated in insulin-dependent diabetic children
    Garg, M
    Thamotharan, S
    Becker, D
    Devaskar, SU
    PEDIATRIC RESEARCH, 2002, 51 (04) : 129A - 129A
  • [50] A C-peptide complex with albumin and Zn2+ increases measurable GLUT1 levels in membranes of human red blood cells
    M. Geiger
    T. Janes
    H. Keshavarz
    S. Summers
    C. Pinger
    D. Fletcher
    K. Zinn
    M. Tennakoon
    A. Karunarathne
    D. Spence
    Scientific Reports, 10
12345