Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

doi:10.1038/ncomms9038

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Article

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

Nature communications - 3 Sept 2015

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

Abstract excerpt

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...

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Identifiers

PMID: 26333769
DOI: 10.1038/ncomms9038
PMCID: PMC4569694

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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