2016
Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia
This study used encoding genetics to determine the relationship of schizophrenia
2014
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy
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.