Rare copy number variants are an important cause of epileptic encephalopathies.
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ABSTRACT:
SUBMITTER: Mefford HC
PROVIDER: S-EPMC3245646 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Publications
Rare copy number variants are an important cause of epileptic encephalopathies.
Mefford Heather C HC Yendle Simone C SC Hsu Cynthia C Cook Joseph J Geraghty Eileen E McMahon Jacinta M JM Eeg-Olofsson Orvar O Sadleir Lynette G LG Gill Deepak D Ben-Zeev Bruria B Lerman-Sagie Tally T Mackay Mark M Freeman Jeremy L JL Andermann Eva E Pelakanos James T JT Andrews Ian I Wallace Geoffrey G Eichler Evan E EE Berkovic Samuel F SF Scheffer Ingrid E IE
Annals of neurology 20111201 6
<h4>Objective</h4>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.<h4>Methods</h4>We evaluated 315 patients with epileptic encephalopathies characterized by epilepsy and progressive cognitive impairment for rare CN ...[more]
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