Article
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
EMBO reports - 1 Jul 2014
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
Abstract excerpt
The KCC2 cotransporter establishes the low neuronal Cl(-) levels required for GABAA 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 non-synonymous functional variants in human KCC2, R952H and R1049C, exhibiting clear statistical association with...
Topics
Join the communities discussing this publication.