"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency

Epileptic Disorders

Volumn 13, Issue 3, 2011, Pages 300-303

  Gaspard, Nicolas ^a   Suls, Arvid ^b,c,d   Vilain, Catheline ^a   De Jonghe, Peter ^b,c,d,e   Van Bogaert, Patrick ^a  

^a ERASME HOSPITAL   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Children; De vivo syndrome; Myoclonic epilepsy of infancy; Myoclonus; Seizure; SLC2A1

Indexed keywords

GLUCOSE; GLUCOSE TRANSPORTER 1; LAMOTRIGINE; TOPIRAMATE; VALPROIC ACID; DNA; SLC2A1 PROTEIN, HUMAN;

ABSENCE; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; BENIGN MYOCLONUS EPILEPSY OF EPILEPSY; BENIGN MYOCLONUS EPILEPSY OF INFANCY; CASE REPORT; CEREBROSPINAL FLUID LEVEL; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; GENE; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HEAD CIRCUMFERENCE; HEREDITY; HUMAN; INFANT; KETOGENIC DIET; LUMBAR PUNCTURE; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MYOCLONUS EPILEPSY; MYOCLONUS EPILEPSY OF INFANCY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PSYCHOMOTOR DISORDER; RECURRENT DISEASE; SEQUENCE ANALYSIS; SLC2A1 GENE; TONIC CLONIC SEIZURE; BENIGN CHILDHOOD EPILEPSY; ELECTROENCEPHALOGRAPHY; GENETICS; NEUROLOGIC DISEASE; SEIZURE;

DNA; ELECTROENCEPHALOGRAPHY; EPILEPSY, BENIGN NEONATAL; GAIT DISORDERS, NEUROLOGIC; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; KETOGENIC DIET; MALE; MUTATION, MISSENSE; MYOCLONIC EPILEPSY, JUVENILE; SEIZURES;

EID: 84856404355     PISSN: 12949361     EISSN: 19506945     Source Type: Journal    
DOI: 10.1684/epd.2011.0452     Document Type: Article

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