Publications

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

2016

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

Authors: Nancy Merner, Adriana Mercado, Arjun Khanna, Alan Hodgkinson, Vanessa Bruat, Philip Awadalla, Gerardo Gamba, Guy Rouleau, Kristopher Kahle

This study used encoding genetics to determine the relationship of schizophrenia

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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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