![]() The interview was modified from a previously validated instrument. Subjects were administered a detailed, semistructured diagnostic interview to ascertain seizure types, seizure semiology, seizure frequency, age at onset, diurnal pattern of seizure occurrence (e.g., nocturnal only, upon awakening), and history of status epilepticus. ![]() Participants with diagnoses of both GE and FE were not included in this study. Participants with benign rolandic epilepsy diagnosed by clinical presentation were not required to have neuroimaging. Patients with nonacquired FE were also required to have focal EEG abnormalities or unambiguous clinical semiology consistent with focal seizures. Individuals with mesial temporal sclerosis or focal cortical dysplasia were not excluded because these lesions are not clearly a result of exogenous injury. To be classified as nonacquired FE, neuroimaging was required to be normal or show evidence of mesial temporal sclerosis or focal cortical dysplasia. Exceptions were occasionally made to include a subject in the GE group without a positive EEG only when all 6 members of the Phenome Core agreed that one or more of the clinical features (e.g., morning myoclonus, photosensitivity, or responsiveness to valproate) were diagnostic and no focal features were present. To be classified as GE, participants had to have generalized-onset seizures, normal neuroimaging if done (although not required), and an EEG showing generalized epileptiform activity with a normal posterior dominant rhythm for age. Individuals with only febrile seizures or acute symptomatic seizures (i.e., precipitated by acute metabolic or structural CNS insults) were excluded, as were those with a history of acquired CNS injury before onset of epilepsy. Eligibility requirements included enrollment age 4 weeks to 60 years, age at first unprovoked seizure 40 years or younger, and a clear diagnosis of epilepsy, i.e., a lifetime history of 2 or more unprovoked seizures or one seizure with epileptiform EEG activity. ![]() At each site, detailed information was collected on epilepsy phenotype, family history, electrophysiologic characteristics, neuroimaging findings, demographic variables, and response to medications. There were 27 participating clinical centers in the United States, Canada, Argentina, Australia, and New Zealand. EPGP was a study conducted from May 2007 to April 2014 whose goal was to recruit, perform detailed phenotyping on, and collect DNA from more than 3,750 participants with epilepsy. ![]() The study included the sibling and parent-child pairs with GE of unknown cause (including those with idiopathic GEs ) and FE in the Epilepsy Phenome/Genome Project (EPGP). ![]()
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