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.

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.

BRUSCO, Alfredo;DI GREGORIO, ELEONORA;
2013

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.
EPILEPSIA
54
5
e69
e73
http://onlinelibrary.wiley.com/doi/10.1111/epi.12130/pdf
Epilepsy; Seizures; 15q13.3; microdeletion
Coppola A;Bagnasco I;Traverso M;Brusco A;Di Gregorio E;Del Gaudio L;Santulli L;Caccavale C;Vigliano P;Minetti C;Striano S;Zara F;Striano P
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/131681
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