Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

Hane Lee, Meng-chin A. Lin, Harley I. Kornblum, Diane M. Papazian, Stanley F. Nelson

Wednesday, February 5, 2014
Published in Human Molecular Genetics
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddu056