GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

Autor: Lemke, Johannes R., Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J., James, Victoria M., Pepler, Alex, Steiner, Isabelle, Hoertnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah

Publikováno v: Annals of neurology 75(1), 147-154 (2014). doi:10.1002/ana.24073
Annals of Neurology
Annals of neurology
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 and Weckhuysen, Sarah (2014). GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Annals of neurology, 75(1), pp. 147-154. Wiley-Blackwell 10.1002/ana.24073

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

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https://pub.dzne.de/record/137262