title: Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.
abstract: 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.
authors: Epilepsy Center, Neurology Department, Federico II University of Naples, Naples, Italy. antonietta.coppola1@gmail.com
authors: Antonietta
authors: A
authors: Coppola
authors: Irene
authors: I
authors: Bagnasco
authors: Monica
authors: M
authors: Traverso
authors: Alfredo
authors: A
authors: Brusco
authors: Eleonora
authors: E
authors: Di Gregorio
authors: Luigi
authors: L
authors: Del Gaudio
authors: Lia
authors: L
authors: Santulli
authors: Carmela
authors: C
authors: Caccavale
authors: Piernanda
authors: P
authors: Vigliano
authors: Carlo
authors: C
authors: Minetti
authors: Salvatore
authors: S
authors: Striano
authors: Federico
authors: F
authors: Zara
authors: Pasquale
authors: P
authors: Striano
mesh_terms: D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007360:Intelligence; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation