Journal article

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

John A Damiano, Saul A Mullen, Michael S Hildebrand, Susannah T Bellows, Kate M Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik M Dahl, Heather C Mefford, Benjamin W Darbro, Ingrid E Scheffer, Samuel F Berkovic



The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially schizophrenia. Deficiency of the acetylcholine receptor gene CHRNA7 and the partial duplication, CHRFAM7A, may contribute to these phenotypes and we sought to comprehensively analyze these genes in genetic generalized epilepsy. We analyzed using DHPLC, Sanger sequencing and long range PCR, 174 probands with genetic generalized epilepsy with or without intellectual disability or psychosis, including 8 with the recurrent 15q13.3 microdeletion. We searched CHRNA7 and CHRFAM7A for single sequence variants, small copy number variants, and the common 2-bp deletion in CH..

View full abstract


Awarded by National Health and Medical Research Council

Funding Acknowledgements

We thank the patients and families for participating in our research program. Elena Aleksoska (Epilepsy Research Centre, University of Melbourne) is acknowledged for performing genomic DNA extractions. This study was supported by National Health and Medical Research Council Program Grant (628952) to S.F.B and I.E.S, an Australia Fellowship (466671) to S.F.B, a Practitioner Fellowship (1006110) to I.E.S and a Career Development Fellowship (1063799) to M.S.H. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.