Auteurs
Dimassi S - Labalme A - Lesca G - Rudolf G - Bruneau N - Hirsch E - Arzimanoglou A - Motte J - de Saint Martin A - Boutry-Kryza N - Cloarec R - Benitto A - Ameil A - Edery P - Ryvlin P - De Bellescize J - Szepetowski P - Sanlaville D
Journal
Epilepsia
Abstract
Rolandic epilepsies (REs) represent the most frequent epilepsy in childhood. Patients may experience cognitive, speech, language, reading, and behavioral issues. The genetic origin of REs has long been debated. The participation of rare copy number variations (CNVs) in the pathophysiology of various human epilepsies has been increasingly recognized. However, no systematic search for microdeletions or microduplications has been reported in RE so far.