Full-Length Original Research
Polymicrogyria-associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project
Article first published online: 10 JUN 2013
Wiley Periodicals, Inc. © 2013 International League Against Epilepsy
Volume 54, Issue 8, pages 1368–1375, August 2013
How to Cite
Shain, C., Ramgopal, S., Fallil, Z., Parulkar, I., Alongi, R., Knowlton, R., Poduri, A. and the EPGP Investigators (2013), Polymicrogyria-associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia, 54: 1368–1375. doi: 10.1111/epi.12238
- Issue published online: 30 JUL 2013
- Article first published online: 10 JUN 2013
- Manuscript Accepted: 29 APR 2013
- NINDS. Grant Number: 053998
- Finding a Cure for Epilepsy and Seizures (FACES) Foundation
- Richard Thalheimer Philanthropic Fund
- NINDS. Grant Number: K23NS069784
- Epilepsy Phenome/Genome Project
Polymicrogyria (PMG) is an epileptogenic malformation of cortical development. We describe the clinical epilepsy and imaging features of a large cohort with PMG-related epilepsy.
Participants were recruited through the Epilepsy Phenome/Genome Project, a multicenter collaborative effort to collect detailed phenotypic data on individuals with epilepsy. We reviewed phenotypic data from participants with epilepsy and PMG.
We identified 87 participants, 43 female and 44 male, with PMG and epilepsy. Median age of seizure onset was 3 years (range <1 month to 37 years). Most presented with focal epilepsy (87.4%), some in combination with seizures generalized from onset (23.0%). Focal seizures with dyscognitive features were most common (54.3%). Of those presenting with generalized seizure types, infantile spasms were most prevalent (45.2%). The most common topographic pattern was perisylvian PMG (77.0%), of which the majority was bilateral (56.7%). Generalized PMG presented with an earlier age of seizure onset (median age of 8 months) and an increased prevalence of developmental delay prior to seizure onset (57.1%). Of the unilateral, and asymmetric bilateral groups where PMG was more involved in one hemisphere, the majority (71.4%) of participants had seizures that lateralized to the same hemisphere as the PMG or the hemisphere with greater involvement.
Participants with PMG had both focal and generalized onset of seizures. Our data confirm the involvement of known topographic patterns of PMG and suggest that more extensive distributions of PMG present with an earlier age of seizure onset and increased prevalence of developmental delay prior to seizure onset.