Electronic health record (EHR) data from a study analyzing data from 658 people with a wide range of epilepsy syndromes and genetic aetiologies showed that healthcare system usage was highest between ages 2 and 7 years.1 In addition, the EHR data showed that the distribution of neurology-related encounters reflected the known age-dependent distribution of many neurodevelopmental disorders.1 Further analysis of the association between recorded encounters and the genetic aetiologies identified in the individuals included in the study showed several significant time-dependent gene-phenotype associations, including status epilepticus with SCN1A at 1 year of age, and infantile spasms with STXBP1 at 6 months of age.1 These results suggest that data derived from EHRs might aid in identifying longitudinal phenotypic patterns for genetic epilepsies.1
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