Pamela Lachance-Touchette

TL;DR: The report of two non‐synonymous functional variants in human KCC2, R952H and R1049C, exhibiting clear statistical association with idiopathic generalized epilepsy (IGE) are described and suggest genetically encoded impairment of K CC2 functional regulation may be a risk factor for the development of human IGE.

TL;DR: Electrophysiological analysis revealed that K353delins18X and D219N altered GABAA receptor function by reducing the total surface expression of mature protein and/or by curtailing neurotransmitter effectiveness, which would be expected to have a detrimental effect on inhibitory control of neuronal circuits.

TL;DR: DNAJC5, which encodes the cysteine string protein (CSPα), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease, and the leucine residues at positions 115 and 116 are hotspots for mutations and result in a homogeneous phenotype of progressive myoclonus epilepsy with onset around 30 years old.

TL;DR: This study screened the open reading frame of GABRB3 in 183 French‐Canadian individuals with IGE, including 88 with CAE, and identified nine single nucleotide polymorphisms (SNPs), five of which are novel.

TL;DR: The absence of overlap in the genes identified suggests that the number of genes involved in SCZ is likely to be very large; a notion supported by the moderate success of Genome-Wide Association Studies (GWAS).