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

WG Leen; J Klepper; MM Verbeek; M Leferink; T Hofste; BG van Engelen; RA Wevers; T Arthur; N Bahi-Buisson; D Ballhausen; J Bekhof; P van Bogaert; I Carrilho; B Chabrol; MP Champion; J Coldwell; P Clayton; E Donner; A Evangeliou; F Ebinger; K Farrell; RJ Forsyth; CGEL de Goede; S Gross; S Grunewald; H Holthausen; S Jayawant; K Lachlan; V Laugel; K Leppig; MJ Lim; G Mancini; A Della Marina; L Martorell; J McMenamin; MEC Meuwissen; H Mundy; NO Nilsson; A Panzer; BT Poll-The; Christian Rauscher; CMR Rouselle; I Sandvig; T Scheffner; E Sheridan; N Simpson; P Sykora; R Tomlinson; J Trounce; D Webb; B Weschke; H Scheffer; MA Willemsen

doi:10.1093/brain/awp336

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

WG Leen
, J Klepper
, MM Verbeek
, M Leferink
, T Hofste
, BG van Engelen
, RA Wevers
, T Arthur
, N Bahi-Buisson
, D Ballhausen
, J Bekhof
, P van Bogaert
, I Carrilho
, B Chabrol
, MP Champion
, J Coldwell
, P Clayton
, E Donner
, A Evangeliou
, F Ebinger

K Farrell, RJ Forsyth, CGEL de Goede, S Gross, S Grunewald, H Holthausen, S Jayawant, K Lachlan, V Laugel, K Leppig, MJ Lim, G Mancini, A Della Marina, L Martorell, J McMenamin, MEC Meuwissen, H Mundy, NO Nilsson, A Panzer, BT Poll-The, Christian Rauscher (Co-author), CMR Rouselle, I Sandvig, T Scheffner, E Sheridan, N Simpson, P Sykora, R Tomlinson, J Trounce, D Webb, B Weschke, H Scheffer, MA Willemsen

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

296 Citations (Web of Science)

Original language	English
Pages (from-to)	655-670
Journal	BRAIN
Volume	133
DOIs	https://doi.org/10.1093/brain/awp336
Publication status	Published - 2010

Keywords

FACILITATIVE GLUCOSE-TRANSPORTER
CYSTEINE-SCANNING MUTAGENESIS
BLOOD-BRAIN-BARRIER
GLUT-1 DEFICIENCY
KETOGENIC-DIET
INDUCED DYSKINESIAS
EPILEPSY
MUTATIONS
SLC2A1
PROTEINS

Access to Document

10.1093/brain/awp336

Cite this

Leen, WG., Klepper, J., Verbeek, MM., Leferink, M., Hofste, T., van Engelen, BG., Wevers, RA., Arthur, T., Bahi-Buisson, N., Ballhausen, D., Bekhof, J., van Bogaert, P., Carrilho, I., Chabrol, B., Champion, MP., Coldwell, J., Clayton, P., Donner, E., Evangeliou, A., ... Willemsen, MA. (2010). Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. BRAIN , 133, 655-670. https://doi.org/10.1093/brain/awp336

Leen, WG ; Klepper, J ; Verbeek, MM et al. / Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. In: BRAIN 2010 ; Vol. 133. pp. 655-670.

@article{76d14fb8145a436683a9b89ed5aacbd4,

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

keywords = "FACILITATIVE GLUCOSE-TRANSPORTER, CYSTEINE-SCANNING MUTAGENESIS, BLOOD-BRAIN-BARRIER, GLUT-1 DEFICIENCY, KETOGENIC-DIET, INDUCED DYSKINESIAS, EPILEPSY, MUTATIONS, SLC2A1, PROTEINS",

author = "WG Leen and J Klepper and MM Verbeek and M Leferink and T Hofste and \{van Engelen\}, BG and RA Wevers and T Arthur and N Bahi-Buisson and D Ballhausen and J Bekhof and \{van Bogaert\}, P and I Carrilho and B Chabrol and MP Champion and J Coldwell and P Clayton and E Donner and A Evangeliou and F Ebinger and K Farrell and RJ Forsyth and \{de Goede\}, CGEL and S Gross and S Grunewald and H Holthausen and S Jayawant and K Lachlan and V Laugel and K Leppig and MJ Lim and G Mancini and \{Della Marina\}, A and L Martorell and J McMenamin and MEC Meuwissen and H Mundy and NO Nilsson and A Panzer and BT Poll-The and Christian Rauscher and CMR Rouselle and I Sandvig and T Scheffner and E Sheridan and N Simpson and P Sykora and R Tomlinson and J Trounce and D Webb and B Weschke and H Scheffer and MA Willemsen",

note = "Rauscher: Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria",

year = "2010",

doi = "10.1093/brain/awp336",

language = "English",

volume = "133",

pages = "655--670",

journal = "BRAIN ",

issn = "0006-8950",

publisher = "Oxford Univ Press",

}

Leen, WG, Klepper, J, Verbeek, MM, Leferink, M, Hofste, T, van Engelen, BG, Wevers, RA, Arthur, T, Bahi-Buisson, N, Ballhausen, D, Bekhof, J, van Bogaert, P, Carrilho, I, Chabrol, B, Champion, MP, Coldwell, J, Clayton, P, Donner, E, Evangeliou, A, Ebinger, F, Farrell, K, Forsyth, RJ, de Goede, CGEL, Gross, S, Grunewald, S, Holthausen, H, Jayawant, S, Lachlan, K, Laugel, V, Leppig, K, Lim, MJ, Mancini, G, Della Marina, A, Martorell, L, McMenamin, J, Meuwissen, MEC, Mundy, H, Nilsson, NO, Panzer, A, Poll-The, BT, Rauscher, C, Rouselle, CMR, Sandvig, I, Scheffner, T, Sheridan, E, Simpson, N, Sykora, P, Tomlinson, R, Trounce, J, Webb, D, Weschke, B, Scheffer, H & Willemsen, MA 2010, 'Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder', BRAIN , vol. 133, pp. 655-670. https://doi.org/10.1093/brain/awp336

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. / Leen, WG; Klepper, J; Verbeek, MM et al.
In: BRAIN , Vol. 133, 2010, p. 655-670.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

AU - Leen, WG

AU - Klepper, J

AU - Verbeek, MM

AU - Leferink, M

AU - Hofste, T

AU - van Engelen, BG

AU - Wevers, RA

AU - Arthur, T

AU - Bahi-Buisson, N

AU - Ballhausen, D

AU - Bekhof, J

AU - van Bogaert, P

AU - Carrilho, I

AU - Chabrol, B

AU - Champion, MP

AU - Coldwell, J

AU - Clayton, P

AU - Donner, E

AU - Evangeliou, A

AU - Ebinger, F

AU - Farrell, K

AU - Forsyth, RJ

AU - de Goede, CGEL

AU - Gross, S

AU - Grunewald, S

AU - Holthausen, H

AU - Jayawant, S

AU - Lachlan, K

AU - Laugel, V

AU - Leppig, K

AU - Lim, MJ

AU - Mancini, G

AU - Della Marina, A

AU - Martorell, L

AU - McMenamin, J

AU - Meuwissen, MEC

AU - Mundy, H

AU - Nilsson, NO

AU - Panzer, A

AU - Poll-The, BT

AU - Rauscher, Christian

AU - Rouselle, CMR

AU - Sandvig, I

AU - Scheffner, T

AU - Sheridan, E

AU - Simpson, N

AU - Sykora, P

AU - Tomlinson, R

AU - Trounce, J

AU - Webb, D

AU - Weschke, B

AU - Scheffer, H

AU - Willemsen, MA

N1 - Rauscher: Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria

PY - 2010

Y1 - 2010

KW - FACILITATIVE GLUCOSE-TRANSPORTER

KW - CYSTEINE-SCANNING MUTAGENESIS

KW - BLOOD-BRAIN-BARRIER

KW - GLUT-1 DEFICIENCY

KW - KETOGENIC-DIET

KW - INDUCED DYSKINESIAS

KW - EPILEPSY

KW - MUTATIONS

KW - SLC2A1

KW - PROTEINS

U2 - 10.1093/brain/awp336

DO - 10.1093/brain/awp336

M3 - Original Article

SN - 0006-8950

VL - 133

SP - 655

EP - 670

JO - BRAIN

JF - BRAIN

ER -

Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. BRAIN . 2010;133:655-670. doi: 10.1093/brain/awp336