Abstracts

Rationale: The diagnosis of seizure type and epilepsy syndrome are usually made by clinicians using non-standardized historical interviews that often focus on selected areas, and are influenced by EEG and neuroimaging results. The Epilepsy Phenome Genome Project (EPGP) is a 13 center NIH-funded study to create a comprehensive phenomic (clinical) and genetic database in epilepsy. The main focus is to study sibling pairs with nonsymptomatic forms of localization-related or idiopathic generalized epilepsy. In addition to detailed reviews of medical records and neuro-diagnostic (MRI, EEG, videoEEG) studies, we sought to obtain consistent and comprehensive phenomic data regarding the clinical features of seizures. The collection of detailed phenomic data on study subjects will enable a systematic classification of the study population into subsets by phenotypic characteristics. Methods: We are administering a standardized, structured diagnostic inventory (EPGP-DI) to capture detailed phenomic data regarding the patient’s epilepsy history. Participants will also complete a semi-structured interview designed to gather detailed information about seizure history and risk factors for epilepsy, medical history, and family history. The Epilepsy Phenome Genome Project- Diagnostic Interview (EPGP-DI) is a modified version of the previously validated Columbia University inventory. All subjects are asked detailed questions to identify both partial and generalized seizure symptoms. The EPGP-DI is divided into four parts - Seizure History Overview, Grand Mal Seizures, Other Events, and Screen for Status Epilepticus/Prolonged Seizures/Recurrent Seizures. Additional sections cover history of migraine and alcohol use. Separate inventories will be used to assess depression and anxiety. The EPGP-DI has been formatted to an online web based tool with skip logic to streamline administration and scoring. The EPGP-DI can be administered by a trained research assistant. This instrument will allow the collection of clinical data in a systematic and non-biased format to both classify and characterize various seizure types and epilepsies. A computerized version will be demonstrated. Results: The total numbers of items range from 100-200, depending on the number of different seizure types and number of positive responses that trigger followup questions. Initial trials have shown that the diagnostic interview can be completed in 45 minutes to 2 hours. To date, we have completed 35 EPGP-DIs of the 153 participants. Conclusions: We anticipate that the EPGP-DI will help to identify the genetic influences on specific phenotypic subsets. For example, specific partial seizure symptoms or symptom clusters may be used to identify more genetically homogeneous subsets. Although the Epilepsy Phenome Genome Project-Diagnostic Interview was developed as a research tool, a simplified version could be created for more widespread clinical use.