The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. We now report the identification by whole exome sequencing of the missense mut...

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Hlavní autoři: Mallaret, Martial, Synofzik, Matthis, Lee, Jaeho, Sagum, Cari A., Mahajnah, Muhammad, Sharkia, Rajech, Drouot, Nathalie, Renaud, Mathilde, Klein, Fabrice A. C., Anheim, Mathieu, Tranchant, Christine, Mignot, Cyril, Mandel, Jean-Louis, Bedford, Mark, Bauer, Peter, Salih, Mustafa A., Schüle, Rebecca, Schöls, Ludger, Aldaz, C. Marcelo, Koenig, Michel
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3914474/
https://ncbi.nlm.nih.gov/pubmed/24369382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt338
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