Milder phenotypes of glucose transporter type 1 deficiency syndrome

Developmental Medicine and Child Neurology

Volumn 53, Issue 7, 2011, Pages 664-668

  Anand, Geetha ^a   Padeniya, Anuruddha ^a   Hanrahan, Donncha ^b   Scheffer, Hans ^c   Zaiwalla, Zenobia ^a   Cox, Debbie ^a   Mann, Nicholas ^d   Hewertson, John ^e   Price, Sue ^e   Nemeth, Andrea ^f   Arsov, Todor ^g   Scheffer, Ingrid ^g   Jayawant, Sandeep ^a   Pike, Michael ^a   Mcshane, Tony ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ROYAL BERKSHIRE HOSPITAL   (United Kingdom)

^e NORTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^f CHURCHILL HOSPITAL   (United Kingdom)

^g UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; ANTICONVULSIVE AGENT; CLOBAZAM; ETHOSUXIMIDE; GLUCOSE TRANSPORTER 1; LAMOTRIGINE; TOPIRAMATE; VALPROIC ACID;

ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; CHILD; DIET; DISEASE SEVERITY; DYSKINESIA; DYSTONIA; EPILEPSY; FEMALE; GAIT DISORDER; GENE; GENETIC ANALYSIS; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; HUMAN; INFANT; KETOGENIC DIET; LEARNING DISORDER; LUMBAR PUNCTURE; MALE; METABOLIC DISORDER; MODIFIED ATKINS DIET; MOTOR DYSFUNCTION; MYOCLONUS; MYOCLONUS SEIZURE; NEUROIMAGING; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; SEIZURE; SLC2A1 GENE;

ADOLESCENT; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DYSTONIA; EPILEPSY, ABSENCE; FEMALE; GAIT; GLUCOSE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MOTOR ACTIVITY; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 79958277243     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.03949.x     Document Type: Article

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