A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia

Pediatric Neurology

Volumn 50, Issue 1, 2014, Pages 99-100

  Ohshiro Sasaki, Akiko ^a   Shimbo, Hiroko ^a   Takano, Kyoko ^a   Wada, Takahito ^a   Osaka, Hitoshi ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

cerebellar ataxia; episodic ataxia; glucose transporter type 1 deficiency syndrome; intellectual disability; ketogenic diet; seizure; SLC2A1

Indexed keywords

ACETAZOLAMIDE; GLUCOSE; GLUCOSE TRANSPORTER 1;

ARTICLE; ATAXIA; ATAXIC GAIT; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID LEVEL; CHILD; CHILDHOOD DISEASE; DIET; ELECTROENCEPHALOGRAPHY; EXON; EYE MOVEMENT DISORDER; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; HUMAN; HUNGER; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MODIFIED ATKINS DIET; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPSOCLONUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REHYDRATION; TONIC CLONIC SEIZURE; VACCINATION; VOMITING; COMPLICATION; DEFICIENCY; GENETICS; METABOLIC ENCEPHALOPATHY;

BRAIN DISEASES, METABOLIC; CEREBELLAR ATAXIA; CHILD, PRESCHOOL; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MALE;

EID: 84891590701     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.09.002     Document Type: Article

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