GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

OBJECTIVE: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations. METHODS: Using a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes known to contribute to epilepsy and/or intellectu...

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Foilsithe in:Ann Neurol
Main Authors: Lemke, Johannes R, Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J, James, Victoria M, Pepler, Alex, Steiner, Isabelle, Hörtnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah
Formáid: Artigo
Teanga:Inglês
Foilsithe: BlackWell Publishing Ltd 2014
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Original Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4223934/
https://ncbi.nlm.nih.gov/pubmed/24272827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24073
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