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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Ann Neurol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BlackWell Publishing Ltd 2014
Aiheet:
Original Articles
Linkit: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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