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

Brain

Volumn 133, Issue 3, 2010, Pages 655-670

  Leen, Wilhelmina G ^a   Klepper, Joerg ^b   Verbeek, Marcel M ^a,c   Leferink, Maike ^a   Hofste, Tom ^a   Van Engelen, Baziel G ^a   Wevers, Ron A ^c   Arthur, Todd ^d   Bahi Buisson, Nadia ^e   Ballhausen, Diana ^f   Bekhof, Jolita ^g   Van Bogaert, Patrick ^h   Carrilho, Inês ⁱ   Chabrol, Brigitte ^j   Champion, Michael P ^k   Coldwell, James ^l   Clayton, Peter ^m   Donner, Elizabeth ⁿ   Evangeliou, Athanasios ^o   Ebinger, Friedrich ^p   Farrell, Kevin ^q   Forsyth, Rob J ^r   De Goede, Christian G E L ^s   Gross, Stephanie ^t   Grunewald, Stephanie ^u   Holthausen, Hans ^v   Jayawant, Sandeep ^w   Lachlan, Katherine ^x   Laugel, Vincent ^y   Leppig, Kathy ^z   Lim, Ming J ^k   Mancini, Grazia ^aa   Marina, Adela Della ^ab   Martorell, Loreto ^ac   McMenamin, Joe ^ad   Meuwissen, Marije E C ^aa   Mundy, Helen ^k   Nilsson, Nils O ^ae   Panzer, Axel ^af   Poll The, Bwee T ^ag   Rauscher, Christian ^ah   Rouselle, Christophe M R ^g   Sandvig, Inger ^ai   Scheffner, Thomas ^aj   Sheridan, Eamonn ^ak   Simpson, Neil ^al   Sykora, Parol ^am   Tomlinson, Richard ^an   Trounce, John ^ao   Webb, David ^ad   Weschke, Bernhard ^ap   Scheffer, Hans ^a   Willemsen, Michél A ^c   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b KLINIKUM ASCHAFFENBURG   (Germany)

^c RADBOUD UNIVERSITY   (Netherlands)

^d Cincinnati Children's Hosp Med C   (United States)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^g ULB Hô Pital Erasme ^*  (France)

^h UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

ⁱ HOSPITAL MARIA PIA   (Portugal)

^j TIMONE HOSPITAL   (France)

^k EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^l Children's Medical Centre   (United States)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁿ HOSPITAL FOR SICK CHILDREN   (Canada)

^o PAPAGEORGIOU GENERAL HOSPITAL   (Greece)

^p UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^q UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^r NEWCASTLE UNIVERSITY   (United Kingdom)

^s ROYAL PRESTON HOSPITAL   (United Kingdom)

^t JUSTUS LIEBIG UNIVERSITY   (Germany)

^u GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^v BHZ   (Germany)

^w JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^x Wessex Regional Genetics Service   (United Kingdom)

^y UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^z CENTER FOR HEALTH STUDIES   (United States)

^aa ERASMUS MEDICAL CENTER   (Netherlands)

^ab UNIVERSITY OF DUISBURG ESSEN   (Germany)

^ac HOSPITAL SANT JOAN DE DÉU   (Spain)

^ad OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^ae HALMSTAD HOSPITAL   (Sweden)

^af DRK Kliniken   (Germany)

^ag ACADEMIC MEDICAL CENTER   (Netherlands)

^ah PARACELSUS MEDICAL UNIVERSITY   (Austria)

^ai OSLO UNIVERSITY HOSPITAL   (Norway)

^aj Klinik fur Kinder und Jugendmedizin Reutlingen   (Germany)

^ak UNIVERSITY OF LEEDS   (United Kingdom)

^al Child Health Department   (United Kingdom)

^am UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

^an ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^ao ROYAL ALEXANDRA CHILDREN S HOSPITAL   (United Kingdom)

^ap CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

more..

Author keywords

Cerebrospinal fluid; GLUT1 deficiency syndrome; Ketogenic diet; Phenotype; SLC2A1 gene

Indexed keywords

GLUCOSE; GLUCOSE TRANSPORTER 1; LACTIC ACID;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBROSPINAL FLUID; CHEMICAL ANALYSIS; CHILD; EPILEPSY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; KETOGENIC DIET; LACTATE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICIAN; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; RETROSPECTIVE STUDY; SCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; DYSKINESIAS; EPILEPSY; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; KETOGENIC DIET; MALE; MENTAL RETARDATION; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; SYNDROME; YOUNG ADULT;

EID: 77950286198     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awp336     Document Type: Article

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