Article
Rare copy number variants are an important cause of epileptic encephalopathies.
Annals of neurology - 1 Dec 2011
Mefford Heather C, Yendle Simone C, Hsu Cynthia, Cook Joseph, Geraghty Eileen, McMahon Jacinta M, Eeg-Olofsson Orvar, Sadleir Lynette G, Gill Deepak, Ben-Zeev Bruria, Lerman-Sagie Tally, Mackay Mark, Freeman Jeremy L, Andermann Eva, Pelakanos James T, Andrews Ian, Wallace Geoffrey, Eichler Evan E, Berkovic Samuel F, Scheffer Ingrid E
Abstract excerpt
OBJECTIVE: Rare copy number variants (CNVs)--deletions and duplications--have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed. METHODS: We evaluated 315 patients with epileptic encephalopathies...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.