GLUT1 deficiency without epilepsy: Yet another case

Journal of Child Neurology

Volumn 23, Issue 7, 2008, Pages 832-834

  Joshi, Charuta ^a   Greenberg, Cheryl R ^a   De Vivo, Darryl ^b   Wang, Dong ^b   Chan Lui, Winifred ^a   Booth, Frances A ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b NewYork Presbyterian Hospital   (United States)

Author keywords

Ataxia; Developmental delay; GLUT1 DS; Seizures

Indexed keywords

3 METHYLGLUCOSE; ACETAZOLAMIDE; CARBAMAZEPINE; CARNITINE; CLOBAZAM; ETIRACETAM; GLUCOSE; GLUCOSE TRANSPORTER 1; LAMOTRIGINE; MEDIUM CHAIN TRIACYLGLYCEROL; THIOCTIC ACID; TOPIRAMATE;

ABSENCE; ADOLESCENT; ARTICLE; ATAXIA; ATONIC SEIZURE; BALANCE DISORDER; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; CLINICAL FEATURE; COGNITIVE DEFECT; DEMYELINATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE COURSE; DRUG TREATMENT FAILURE; DRUG WITHDRAWAL; DYSMETRIA; ELECTROENCEPHALOGRAM; EPILEPSY; FAMILY HISTORY; GLUCOSE BLOOD LEVEL; HUMAN; KETOGENIC DIET; LUMBAR PUNCTURE; MALE; MENTAL DETERIORATION; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NERVE BIOPSY; NERVE CELL DIFFERENTIATION; NERVE FIBER; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REMYELINIZATION; RIGIDITY; SEIZURE; SLOW BRAIN WAVE; SPEECH DISORDER; SPIKE WAVE; TREATMENT RESPONSE; UNSPECIFIED SIDE EFFECT; WALKING DIFFICULTY;

ATAXIA; BLOOD GLUCOSE; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; EPILEPSY; GLUCOSE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; MALE; SEIZURES; SYNDROME;

EID: 47349106524     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808314896     Document Type: Article

References (10)

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