Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy - 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; et al. (EMBO reports, 2014)
Keywords: Action Potentials; Alleles; Animals; Case-Control Studies; cation-chloride cotransporters; Cell Line; Chlorides - metabolism; EMBO20; EMBO24; EMBO27; Epilepsy; Epilepsy, Generalized - genetics; Epilepsy, Generalized - metabolism; GABA; Gene Frequency; Genetic Variation; Genetics; Hippocampus - metabolism; Humans; K Cl- Cotransporters; KCC2; kinase; Models, Molecular; Mutation; Phosphorylation; Protein Conformation; Protein Interaction Domains and Motifs; Pyramidal Cells - metabolism; Quebec; Rats; Risk factors; Scientific Report; Scientific Reports; Symporters - chemistry; Symporters - genetics; Symporters - metabolism; Quebec; epilepsy; GABA; cation‐chloride cotransporters; kinase; KCC2