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. Author manuscript; available in PMC: 2016 May 1.
Published in final edited form as: Nat Neurosci. 2015 Feb 24;18(3):344–350. doi: 10.1038/nn.3933

Figure 1.

Figure 1

Inherited gene variants are discovered in human epilepsy pedigrees and de novo variants are detected in proband-parental trios. These require physiological verification in orthologous models to demonstrate epileptic phenotypes. Pathway-driven candidate genes are mutagenized and validated in models for rediscovery in human exomes. Each revolution of this discovery cycle results in a validated diagnostic gene and an experimental biological test system to search for therapy. IPSC, induced pluripotent stem cell.