Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes

Epilepsia

Volumn 52, Issue 10, 2011, Pages

  Mulley, John C ^a,b,c   Scheffer, Ingrid E ^d   Desai, Tarishi ^d   Bayly, Marta A ^a   Grinton, Bronwyn E ^d   Vears, Danya F ^d   Berkovic, Samuel F ^d   Dibbens, Leanne M ^e  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

Author keywords

15q13.3; Clinical heterogeneity; Copy number variant; Genetic heterogeneity; Genetic modifier

Indexed keywords

ARTICLE; CHROMOSOME 15Q; DNA MODIFICATION; EPILEPSY; FAMILIAL EPILEPSY; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC MARKER; GENOME ANALYSIS; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; DNA COPY NUMBER VARIATIONS; EPILEPSY; EPILEPSY, GENERALIZED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PEDIGREE; PHENOTYPE;

EID: 80053571410     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2011.03188.x     Document Type: Article

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