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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223934/
https://www.ncbi.nlm.nih.gov/pubmed/24272827
http://dx.doi.org/10.1002/ana.24073

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