Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition by maintaining a hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicated in human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have bee...

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Detalles Bibliográficos
Autores principales: Stödberg, Tommy, McTague, Amy, Ruiz, Arnaud J., Hirata, Hiromi, Zhen, Juan, Long, Philip, Farabella, Irene, Meyer, Esther, Kawahara, Atsuo, Vassallo, Grace, Stivaros, Stavros M., Bjursell, Magnus K., Stranneheim, Henrik, Tigerschiöld, Stephanie, Persson, Bengt, Bangash, Iftikhar, Das, Krishna, Hughes, Deborah, Lesko, Nicole, Lundeberg, Joakim, Scott, Rod C., Poduri, Annapurna, Scheffer, Ingrid E., Smith, Holly, Gissen, Paul, Schorge, Stephanie, Reith, Maarten E. A., Topf, Maya, Kullmann, Dimitri M., Harvey, Robert J., Wedell, Anna, Kurian, Manju A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569694/
https://www.ncbi.nlm.nih.gov/pubmed/26333769
http://dx.doi.org/10.1038/ncomms9038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569694/
https://www.ncbi.nlm.nih.gov/pubmed/26333769
http://dx.doi.org/10.1038/ncomms9038

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