Clinical utility of genetic testing in pediatric drug-resistant epilepsy: A pilot study

Epilepsy and Behavior

Volumn 37, Issue , 2014, Pages 241-248

  Ream, Margie A ^a,b   Mikati, Mohamad A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

Drug resistant epilepsy; Epileptic encephalopathy; Exome sequencing; Genetic testing; Pediatric epilepsy

Indexed keywords

ANTICONVULSIVE AGENT; CDKL5 PROTEIN; EFHC1 PROTEIN; GLUCOSE TRANSPORTER 1; PROTEIN; SLC9A6 PROTEIN; SODIUM CHANNEL NAV1.1; SPTAN PROTEIN; STIRIPENTOL; UNCLASSIFIED DRUG; ANTICONVULSANTS; PHENYTOIN;

ANTICONVULSANT THERAPY; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC SCREENING; HUMAN; KARYOTYPE; LENNOX GASTAUT SYNDROME; MALE; MEDICAL RECORD REVIEW; MICROARRAY ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIATRIC DRUG RESISTANT EPILEPSY; PHENOTYPE; PILOT STUDY; RETROSPECTIVE STUDY; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TONIC CLONIC SEIZURE; WEST SYNDROME; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; EPILEPSY, GENERALIZED; GENETIC TESTING; GENETICS; HUMANS; METHODS; PEDIATRICS; PILOT PROJECTS; RETROSPECTIVE STUDIES; CHROMOSOME ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; GENETIC VARIABILITY; GROWTH RETARDATION; KARYOTYPING; PHARMACOGENETICS; PRESCHOOL CHILD; TERTIARY CARE CENTER;

ANTICONVULSANTS; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; EPILEPSY, GENERALIZED; FEMALE; GENETIC TESTING; HUMANS; PEDIATRICS; PHENOTYPE; PILOT PROJECTS; RETROSPECTIVE STUDIES;

EID: 84905656609     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2014.06.018     Document Type: Article

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