Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

The KCC2 cotransporter establishes the low neuronal Cl(−) levels required for GABA(A) and glycine (Gly) receptor-mediated inhibition, and KCC2 deficiency in model organisms results in network hyperexcitability. However, no mutations in KCC2 have been documented in human disease. Here, we report two...

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Hauptverfasser: Kahle, Kristopher T, Merner, Nancy D, Friedel, Perrine, Silayeva, Liliya, Liang, Bo, Khanna, Arjun, Shang, Yuze, Lachance-Touchette, Pamela, Bourassa, Cynthia, Levert, Annie, Dion, Patrick A, Walcott, Brian, Spiegelman, Dan, Dionne-Laporte, Alexandre, Hodgkinson, Alan, Awadalla, Philip, Nikbakht, Hamid, Majewski, Jacek, Cossette, Patrick, Deeb, Tarek Z, Moss, Stephen J, Medina, Igor, Rouleau, Guy A
Format: Artigo
Sprache:Inglês
Veröffentlicht: BlackWell Publishing Ltd 2014
Schlagworte:
Scientific Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4196980/
https://ncbi.nlm.nih.gov/pubmed/24928908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/embr.201438840
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