Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

Epilepsia

Volumn 53, Issue 12, 2012, Pages

  Arsov, Todor ^a   Mullen, Saul A ^a   Damiano, John A ^a   Lawrence, Kate M ^a   Huh, Linda L ^b   Nolan, Melinda ^c   Young, Helen ^d   Thouin, Anaïs ^e   Dahl, Hans Henrik M ^a   Berkovic, Samuel F ^a   Crompton, Douglas E ^f   Sadleir, Lynette G ^g   Scheffer, Ingrid E ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^d UNIVERSITY OF SYDNEY   (Australia)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^g UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Absence; Genetic generalized epilepsy; Genetics; GLUT1 deficiency

Indexed keywords

AMINO ACID; GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 1; SOLUTE CARRIER FAMILY 2 MEMBER 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; COHORT ANALYSIS; EARLY ONSET ABSENCE EPILEPSY; ELECTROENCEPHALOGRAPHY; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; IN FRAME DELETION; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SLC2A1 GENE; SPIKE WAVE;

ADOLESCENT; ADULT; ANIMALS; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EPILEPSY, ABSENCE; EVOLUTION, MOLECULAR; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION;

EID: 84870579680     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12007     Document Type: Article

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