Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2014

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

Authors: Kristopher Kahle, Nancy Merner, Perrine Friedel, Liliya Silayeva, Bo Liang, Arjun Khanna, Yuze Shang, Pamela LaChance-Touchette, Cynthia Bourassa, Annie Levert, Patrick Dion, Brian Walcott, Dan Spiegelman, Alexandre Dionne-Laporte, Alan Hodgkinson, Philip Awadalla, Hamid Nikbakht, Jacek Majewski, Patrick Cossette, Tarek Deeb, Stephen Moss, Igor Medina, Guy Rouleau

These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE.

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