A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome by Bassuk Alexander G, Wallace Robyn H, Buhr Aimee, Buller Andrew R, Afawi Zaid, Shimojo Masahito, Miyata Shingo, Chen Shan, Gonzalez-Alegre Pedro, Griesbach Hilary L, Wu Shu, Nashelsky Marcus, Vladar Eszter K, Antic Dragana, Ferguson Polly J, Cirak Sebahattin, Voit Thomas, Scott Matthew P, Axelrod Jeffrey D, Gurnett Christina, Daoud Azhar S, Kivity Sara, Neufeld Miriam Y, Mazarib Aziz, Straussberg Rachel, Walid Simri, Korczyn Amos D, Slusarski Diane C, Berkovic Samuel F, El-Shanti Hatem I in American journal of human genetics (2008).

[PMID: 18976727] PubMed

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