ExACtly zero or once A clinically helpful guide to assessing genetic variants in mild epilepsies
Caitlin A Bennett, Slave Petrovski, Karen L Oliver, Samuel F Berkovic
NEUROLOGY-GENETICS | LIPPINCOTT WILLIAMS & WILKINS | Published : 2017
OBJECTIVE: To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population. METHODS: We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals. We subsequently evaluated variants in these epilepsy genes that lacked strong segregation support. To determine whether the findings in epilepsies were representative of other disease..View full abstract
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Awarded by NHMRC Program
Study funded by NHMRC Program Grant 1091593.