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Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation

Mutations in several genes encoding ion channels can cause the long-QT (LQT) syndrome with cardiac arrhythmias, syncope and sudden death. Recently, mutations in some of these genes were also identified to cause epileptic seizures in these patients, and the sudden unexplained death in epilepsy (SUDEP...

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Detalles Bibliográficos
Autores principales: Prüss, Harald, Gessner, Guido, Heinemann, Stefan H., Rüschendorf, Franz, Ruppert, Ann-Kathrin, Schulz, Herbert, Sander, Thomas, Rimpau, Wilhelm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603176/
https://www.ncbi.nlm.nih.gov/pubmed/31293497
http://dx.doi.org/10.3389/fneur.2019.00648