Article
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
American journal of human genetics - 11 Feb 2011
Tao Hirotaka, Manak J Robert, Sowers Levi, Mei Xue, Kiyonari Hiroshi, Abe Takaya, Dahdaleh Nader S, Yang Tian, Wu Shu, Chen Shan, Fox Mark H, Gurnett Christina, Montine Thomas, Bird Thomas, Shaffer Lisa G, Rosenfeld Jill A, McConnell Juliann, Madan-Khetarpal Suneeta, Berry-Kravis Elizabeth, Griesbach Hilary, Saneto Russell P, Scott Matthew P, Antic Dragana, Reed Jordan, Boland Riley, Ehaideb Salleh N, El-Shanti Hatem, Mahajan Vinit B, Ferguson Polly J, Axelrod Jeffrey D, Lehesjoki Anna-Elina, Fritzsch Bernd, Slusarski Diane C, Wemmie John, Ueno Naoto, Bassuk Alexander G
Abstract excerpt
Epilepsy is heritable, yet few causative gene mutations have been identified, and thus far no human epilepsy gene mutations have been found to produce seizures in invertebrates. Here we show that mutations in prickle genes are associated with seizures in humans, mice, and flies. We identified human epilepsy patients with heterozygous mutations in either PRICKLE1 or PRICKLE2. In overexpression assays in zebrafish,...
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