Article
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.
Epilepsia - 1 May 2013
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
Abstract excerpt
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...
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