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Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion
Author(s) -
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
Publication year - 2013
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12130
Subject(s) - epilepsy , intellectual disability , copy number variation , pediatrics , microdeletion syndrome , medicine , phenotype , idiopathic generalized epilepsy , seizure types , psychology , psychiatry , genetics , biology , gene , genome
Summary 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.