Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion. Issue 5 (28th February 2013)

• Record Type: Journal Article
• Authors: Coppola, Antonietta; Bagnasco, Irene; Traverso, Monica; Brusco, Alfredo; Di Gregorio, Eleonora; Del Gaudio, Luigi; Santulli, Lia; Caccavale, Carmela; Vigliano, Piernanda; Minetti, Carlo; Striano, Salvatore; Zara, Federico; Striano, Pasquale
• Is Part Of: Epilepsia. Volume 54:Issue 5(2013:May)
• Page Start: e69
• Page End: e73
• Publication Date: 2013-02-28
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1111/epi.12130
• Languages: English
• ISSNs: 0013-9580

Abstract

<abstract abstract-type="main" xml:lang="en" id="epi12130-abs-0001"> <title>Summary</title> <p>15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recently, absence seizures with intellectual disability (ID) have been reported in patients carrying this mutation. We describe two families in which several affected members carry a 15q13.3 microdeletion in a pattern suggestive of autosomal dominant inheritance. Their phenotype includes mainly absence epilepsy and mild ID, suggesting only similarities with genetic/idiopathic generalized epilepsies but not typical features. The importance of studying such families is crucial to broaden the phenotype and understand the long‐term outcome of patients with this condition.</p> </abstract>