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Objective
To determine the roles of shared and distinct genetic influences on generalized and focal epilepsy operating in individuals who manifest features of both types (combined epilepsies), and in families manifesting both generalized and focal epilepsies in separate individuals (mixed families).
Methods
We analyzed the deeply phenotyped Epi4K cohort of multiplex families (≥3 affected individuals...
Objective
We evaluated the yield of systematic analysis and/or reanalysis of whole exome sequencing (WES) data from a cohort of well‐phenotyped pediatric patients with epilepsy and suspected but previously undetermined genetic etiology.
Methods
We identified and phenotyped 125 participants with pediatric epilepsy. Etiology was unexplained at the time of enrollment despite clinical testing, which...
Objective
Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data‐driven approach may augment traditional electroclinical classification and shed new light on existing classification frameworks.
Methods
We used latent class analysis, a statistical method that assigns subjects into groups called...
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