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Ion channel and neurotransmitter receptor subunits dominated epilepsy genetics.
Present
Newly discovered genes highlight the importance of novel pathways involved in epileptogenesis.
Copy number variations associated with idiopathic epilepsy collectively explain a larger portion of epilepsy than any single gene.
Future
Genotype-phenotype correlation is an evolving target: genes and copy number variations discovered in the context of one syndrome are often subsequently found to have broader applicability within the field of epilepsy and to other neurodevelopmental disorders.
Modern methods will allow rapid discovery of more pathogenic gene mutations, variants in non-coding DNA, and copy number variations that encompass several genes.
The new challenge ahead is to model these rapidly accumulating genetic changes in the laboratory so we can continue to build upon our understanding of epilepsy and move toward more rational treatment.