Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

@inproceedings{Stdberg2015MutationsIS,
  title={Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures},
  author={Tommy I St{\"o}dberg and Amy McTague and Arnaud J. Ruiz and Hiromi Hirata and Juan Zhen and Philip I. Long and Irene Farabella and E. F. Meyer and Atsuo Kawahara and Grace Vassallo and Stavros Stivaros and Magnus K. Bjursell and Henrik Stranneheim and Stephanie Tigerschi{\"o}ld and Bengt Persson and I Hussain Bangash and Krishna B. Das and Deborah S. Hughes and Nicole Lesko and Joakim Lundeberg and Rod C. Scott and Annapurna Poduri and Ingrid E. Scheffer and Holly C. Smith and Paul Gissen and Stephanie Schorge and Maarten E. A. Reith and Maya Topf and Dimitri M. Kullmann and Robert J Harvey and Anna Wedell and Manju A. Kurian},
  booktitle={Nature communications},
  year={2015}
}
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 been described. Here we show recessive loss-of-function SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epilepsy of infancy with migrating focal seizures… CONTINUE READING
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Differences in the large extracellular loop between the K(þ )-Cl(-) cotransporters KCC2 and KCC4

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