Title: A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.

Authors: Iori Ohmori, Mamoru Ouchida, Takafumi Miki, Nobuyoshi Mimaki, Shigeki Kiyonaka, Teiichi Nishiki, Kazuhito Tomizawa, Yasuo Mori, Hideki Matsui

Journal, date & volume: Neurobiol. Dis., 2008 Dec , 32, 349-54

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18755274

Abstract