Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Stödberg, Tommy; McTague, Amy; Ruiz, Arnaud; Hirata, Hiromi; Zhen, Juan; Long, Philip; Farabella, Irene; Meyer, Esther; Kawahara, Atsuo; Vassallo, Grace; Stivaros, Stavros; Bjursell, Magnus; Stranneheim, Henrik; Tigerschiöld, Stephanie; Persson, Bengt; Ahmed Bangash, Iftikhar; B. Das, Krishna; Hughes, Deborah; Lesko, Nicole; Lundeberg, Joakim; C. Scott, Rod; Poduri, Annapurna; E. Scheffer, Ingrid; Smith, Holly; Gissen, Paul; Schorge, Stéphanie; E. A. Reith, Maarten; Topf, Maya; M. Kullmann, Dimitri; J. Harvey, Robert; Wedell, Anna; A. Kurian, Manju

doi:10.1038/ncomms9038

Public

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Published in Nature Communications • Sep 3, 2015

Authors:

Tommy Stödberg

Amy McTague

Arnaud Ruiz

Abstract

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...

Subject

Epilepsy

West Syndrome

Transporter

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!