Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

OBJECTIVE: The SCN1A gene, coding for the voltage-gated Na(+) channel alpha subunit Na(V)1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants ar...

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Detalles Bibliográficos
Autores principales: Lal, Dennis, Reinthaler, Eva M., Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Günter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S., Krause, Roland, Zimprich, Fritz, Lemke, Johannes R., Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4798642/
https://www.ncbi.nlm.nih.gov/pubmed/26990884
http://dx.doi.org/10.1371/journal.pone.0150426

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4798642/
https://www.ncbi.nlm.nih.gov/pubmed/26990884
http://dx.doi.org/10.1371/journal.pone.0150426

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