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Epilepsy has its highest incidence in late adult life and early childhood, with one-third of children before 3 years of age presenting with medically refractory seizures that are associated with increased mortality and poor intellectual outcome.1 The holy grail of genetic research is that stratification of disease populations through detailed phenotyping and genetic characterization will ultimately result in better personalized treatments and outcomes. The majority of these severe epilepsies are classed as epileptic encephalopathies (EEs), disorders in which the epileptic activity itself may contribute to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone with worsening over time.2 The infantile-onset EEs with their complex overlapping phenotypes, both in terms of multiple seizure types and variable EEG features, are emerging as a family of individually rare but collectively important genetic diseases. The recognition that multiple rare de novo genetic variants are important causes of EE has become possible through the development of next-generation sequencing technologies and their application in large cohorts of undiagnosed individuals.3
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- © 2015 American Academy of Neurology
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