Sporadic and familial glut1ds Italian patients: A wide clinical variability

Seizure

Volumn 24, Issue C, 2015, Pages 28-32

  De bGiorgis, Valentina ^a   Teutonico, Federica ^b   Cereda, Cristina ^c   Balottin, Umberto ^a,c   Bianchi, Marika ^c   Giordano, Lucio ^d   Olivotto, Sara ^a   Ragona, Francesca ^e   Tagliabue, Anna ^a   Zorzi, Giovanna ^e   Nardocci, Nardo ^e   Veggiotti, Pierangelo ^a,c  

^a UNIVERSITY OF PAVIA   (Italy)

^b RHO HOSPITAL   (Italy)

^c C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^d Pediatric Neuropsychiatric Division   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Cognitive impairment; Epilepsy; GLUT1 deficiency syndrome; Ketogenic diet; Paroxysmal exercise induced dyskinesia; SLC2A1 gene

Indexed keywords

3 HYDROXYBUTYRIC ACID; GLUCOSE TRANSPORTER 1; VALPROIC ACID; GLUCOSE TRANSPORTER;

ADOLESCENT; ADULT; ARACHNOID CYST; ARTICLE; BRAIN ATROPHY; CEREBELLUM VERMIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; DYSARTHRIA; EPILEPSY; EPILEPTIC DISCHARGE; FAMILIAL DISEASE; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; ITALY; KETOGENIC DIET; MALE; MALOCCLUSION; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MYOCLONUS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PAROXYSMAL EXERTION INDUCED DYSKINESIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; PROTEIN DEFICIENCY; PROTEIN STRUCTURE; RELATIVE; SPASTICITY; SPIKE WAVE; SYMPTOM; YOUNG ADULT; CLASSIFICATION; COMPLICATION; DEFICIENCY; DEVELOPMENTAL DISABILITIES; DIET THERAPY; DISORDERS OF CARBOHYDRATE METABOLISM; ELECTROENCEPHALOGRAPHY; FAMILY HEALTH; GENETIC ASSOCIATION; GENETICS; MIDDLE AGED; MUTATION; PROCEDURES;

ADOLESCENT; ADULT; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; EPILEPSY; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; GLUCOSE TRANSPORTER TYPE 1; HUMANS; ITALY; KETOGENIC DIET; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; YOUNG ADULT;

EID: 84927732780     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2014.11.009     Document Type: Article

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