Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

Epilepsy Research

Volumn 131, Issue , 2017, Pages 1-8

  Perucca, Piero ^a   Scheffer, Ingrid E ^a,b   Harvey, A Simon ^a   James, Paul A ^c   Lunke, Sebastian ^a   Thorne, Natalie ^d   Gaff, Clara ^a,d   Regan, Brigid M ^a   Damiano, John A ^a   Hildebrand, Michael S ^a   Berkovic, Samuel F ^a   O'Brien, Terence J ^a   Kwan, Patrick ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^c ROYAL MELBOURNE HOSPITAL   (Australia)

^d Melbourne Genomics Health Alliance   (Australia)

Author keywords

Epilepsy; Focal; Genetic testing; Genetics; Seizures

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; CARBAMAZEPINE; LEVETIRACETAM; PERAMPANEL; SODIUM CHANNEL NAV1.1; ZONISAMIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEPDC5 GENE; DIAGNOSTIC VALUE; DRUG DOSE REDUCTION; DRUG RESISTANT EPILEPSY; FAMILY HISTORY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GABRG2 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; MALE; NPRL2 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PCDH19 GENE; PROSPECTIVE STUDY; SCHOOL CHILD; SCN1A GENE; WHOLE EXOME SEQUENCING; YOUNG ADULT; CLINICAL TRIAL; DNA SEQUENCE; GENETIC SCREENING; GENETIC VARIATION; GENETICS; MIDDLE AGED; MULTICENTER STUDY; PEDIGREE; PRESCHOOL CHILD; PROCEDURES;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; EPILEPSIES, PARTIAL; FEMALE; GENETIC TESTING; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 85012093044     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2017.02.001     Document Type: Article

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