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Epilepsy is a common disorder comprising more than 30 different syndromes. Around 70% of epilepsy cases are thought to be genetic in origin. The genetic and phenotypic heterogeneity seen in epilepsy can make it difficult to diagnose and to treat. By studying rare large families with monogenic forms of epilepsy we have been able to carry out linkage analysis to identify a chromosomal region harbouring the causal variant in a family. By exome sequencing affected individuals and extracting the unique variants from within the linkage interval we have been able to chase down the putative causal variant. The identification of independent mutations in the same gene in patients who are phenotypically similar validates our identification of the casual gene. Using this approach we have recently identified two new genes in autosomal dominant forms of focal epilepsy, a severe form of nocturnal frontal love epilepsy (NFLE) with intellectual disability and psychiatric features and a syndrome known as FFEVF. The findings will lead to improved molecular diagnostic tests in epilepsy and reveal new pathways involved in the pathogenesis of epilepsy.