Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

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...

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主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2011
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035715/
https://ncbi.nlm.nih.gov/pubmed/21276947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.12.012
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