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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Nat Commun
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Pub. Group 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4569694/
https://ncbi.nlm.nih.gov/pubmed/26333769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms9038
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak