Journal article
Lennox-Gastaut syndrome of unknown cause: Phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project
Peter Widdess-Walsh, Dennis Dlugos, Robyn Fahlstrom, Sucheta Joshi, Renee Shellhaas, Alex Boro, Joseph Sullivan, Eric Geller, Bassel Abou-Khalil, Brain Alldredge, Jocelyn Bautista, Sam Berkovic, Judith Bluvstein, Gregory Cascino, Damian Consalvo, Sabrina Cristofaro, Patricia Crumrine, Orrin Devinsky, Michael Epstein, Miguel Fiol Show all
EPILEPSIA | WILEY | Published : 2013
DOI: 10.1111/epi.12395
Abstract
PURPOSE: Lennox-Gastaut syndrome (LGS) is a devastating childhood-onset epilepsy syndrome. The cause is unknown in 25% of cases. Little has been described about the specific clinical or electroencephalography (EEG) features of LGS of unknown or genetic cause (LGS(u)). The Epilepsy Phenome/Genome Project (EPGP) aims to characterize LGS(u) by phenotypic analysis of patients with LGS(u) and their parents. METHODS: One hundred thirty-five patients with LGS with no known etiology and their parents were enrolled from 19 EPGP centers in the United States and Australia. Clinical data from medical records, standardized questionnaires, imaging, and EEG were collected with use of online informatics sys..
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Awarded by NINDS
Funding Acknowledgements
Supported by NINDS U01 NS 053998, as well as planning grants from the Finding a Cure for Epilepsy and Seizures (FACES) Foundation and the Richard Thalheimer Philanthropic Fund. We would like to acknowledge the recruitment contributions of the EPGP Community Referral Network (CRN). The CRN consists of healthcare professionals not paid by the EPGP grant who refer eligible families to EPGP. A list of individual contributors can be found at www.epgp.org. We are also grateful for the efforts of the clinical coordinators, the site principal investigators, neurologists, and support staff at our EPGP clinical centers who have contributed to the recruitment, data acquisition and storage, and extensive phenotyping. Finally, and most importantly, we extend our sincere appreciation to the patients with epilepsy and their families who have contributed to this research effort.