Papers of the week – SCN1B, ATP1A3, NGLY1, and ontologies

Filling in. As Dennis is current fully engaged in the Helsinki meeting, I am filling in for him to present the most relevant publications in the field published in the last two weeks. This week’s publications were about functional studies, phenotype delineations, and novel gene findings. Continue reading

What’s in a phenotype? – the EuroEPINOMICS BENCH database

The backbone. As we have started a new round for BENCH introductory sessions with new collaborators, I thought that it might be timely to talk a little bit about our BENCH phenotype database and the concepts behind it. In addition to the purely technical aspects, there is a more fundamental question behind this: how do we want to document and store epilepsy phenotypes for research purposes, how do we find the balance between precision and efficiency? Continue reading