GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder

European Journal of Medical Genetics

Volumn 55, Issue 5, 2012, Pages 332-334

  Graham, John M ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Absence seizures; Cognitive disability; Epidodic ataxia dystonia; Genetic encephalopathy; GLUT1 deficiency syndrome; Ketogenic diet; SLC2A1; Treatment resistant epilepsy

Indexed keywords

ACETAZOLAMIDE; ALANINE; AMANTADINE; BACLOFEN; CARBAMAZEPINE; CYSTEINE; ETHOSUXIMIDE; GLUCOSE TRANSPORTER 1; HYDANTOIN; PHENOBARBITAL; PROPRANOLOL; SERINE; TYROSINE;

ADD ON THERAPY; ADULT; ARTICLE; ATAXIA; ATTENTION DEFICIT DISORDER; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; COGNITIVE DEFECT; COMPLEX MOVEMENT DISORDER; CONSTIPATION; DELAYED DIAGNOSIS; DEVELOPMENTAL DISORDER; DYSARTHRIA; DYSTONIA; EEG ABNORMALITY; EXON; FEMALE; FOCAL EPILEPSY; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; GRAND MAL SEIZURE; GROWTH DISORDER; HEAD; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HUMAN; HYPERACTIVITY; INFANTILE EPILEPSY; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; LOW DRUG DOSE; MICTURITION DISORDER; MISSENSE MUTATION; MOTOR DYSFUNCTION; OCCUPATIONAL THERAPY; OTITIS MEDIA; PHYSIOTHERAPY; PROTEIN DEFICIENCY; SEIZURE; SPASTICITY; STRABISMUS; TONIC CLONIC SEIZURE;

ABNORMALITIES, MULTIPLE; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; INTELLECTUAL DISABILITY; PSYCHOMOTOR DISORDERS; SYNDROME; YOUNG ADULT;

EID: 84862158632     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.11.009     Document Type: Article

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