Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

Journal of Paediatrics and Child Health

Volumn 42, Issue 5, 2006, Pages 263-267

  Coman, David J ^a,b,c   Sinclair, K G ^a   Burke, C J ^a   Appleton, D B ^a   Pelekanos, J T ^a   O'Neil, C M ^a   Wallace, G B ^d   Bowling, F G ^c,d   Wang, D ^e   De Vivo, D C ^e   McGill, J J ^a,b,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d MATER CHILDREN S HOSPITAL   (Australia)

^e Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Ataxia; Developmental delay; Glucose transporter type 1 deficiency syndrome; Ketogenic diet; Seizures

Indexed keywords

ANTICONVULSIVE AGENT; ETHOSUXIMIDE; ETIRACETAM; GLUCOSE; GLUCOSE TRANSPORTER 1; LAMOTRIGINE; NITRAZEPAM; PHENOBARBITAL; TOPIRAMATE; VALPROIC ACID;

ADOLESCENT; ADULT; ATAXIA; AUSTRALIA; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; EARLY DIAGNOSIS; FEMALE; GENOTYPE; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; INBORN ERROR OF METABOLISM; KETOGENIC DIET; LUMBAR PUNCTURE; MALE; PEDIATRICIAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SEIZURE;

3-O-METHYLGLUCOSE; ANTICONVULSANTS; ATAXIA; BRAIN DISEASES, METABOLIC, INBORN; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; DEVELOPMENTAL DISABILITIES; DIET THERAPY; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; LUMBAR VERTEBRAE; MALE; SEIZURES; SPINAL PUNCTURE; SYNDROME; TREATMENT OUTCOME;

EID: 33646698682     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/j.1440-1754.2006.00852.x     Document Type: Review

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