Article
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Human molecular genetics - 1 Oct 2009
Dibbens Leanne M, Mullen Saul, Helbig Ingo, Mefford Heather C, Bayly Marta A, Bellows Susannah, Leu Costin, Trucks Holger, Obermeier Tanja, Wittig Michael, Franke Andre, Caglayan Hande, Yapici Zuhal, Sander Thomas, Eichler Evan E, Scheffer Ingrid E, Mulley John C, Berkovic Samuel F
Abstract excerpt
Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determine the relative occurrence of sporadic and familial cases and to examine the likelihood of having...
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