Atypical Manifestations in Glut1 Deficiency Syndrome

Journal of Child Neurology

Volumn 31, Issue 9, 2016, Pages 1174-1180

  De Giorgis, V ^a   Varesio, C ^b   Baldassari, C ^b   Piazza, E ^a   Olivotto, S ^b   Macasaet, J ^c   Balottin, U ^a,b   Veggiotti, P ^a,b  

^a UNIVERSITY OF PAVIA   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c MAKATI MEDICAL CENTER   (Philippines)

Author keywords

fatigue; GLUT1DS; oculogyric crises; paroxysmal kinesigenic dyskinesia; paroxysmal nonkinesigenic dyskinesia; SCL2A1

Indexed keywords

APRAXIA; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL MANIFESTATION; COGNITIVE DEFECT; DYSKINESIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GAIT DISORDER; GENE; GENE MUTATION; GENETIC DISORDER; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; HEMOLYTIC ANEMIA; HUMAN; INFANT; MALE; METABOLIC DISORDER; MICROCEPHALY; NEUROIMAGING; NEUROLOGIC DISEASE; PAROXYSMAL EXERCISE INDUCED DYSKINESIA; PRIORITY JOURNAL; SCL2A1 GENE; ADOLESCENT; DEFICIENCY; DIFFERENTIAL DIAGNOSIS; DISEASE EXACERBATION; DISORDERS OF CARBOHYDRATE METABOLISM; GENETICS; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; RETROSPECTIVE STUDY; VIDEORECORDING; YOUNG ADULT;

GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 1; SLC2A1 PROTEIN, HUMAN;

ADOLESCENT; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; VIDEO RECORDING; YOUNG ADULT;

EID: 84978264756     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073816650033     Document Type: Article

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