Katrine M Johannesen
@katrine92658231
MD and PostDoc. training to be a clinical geneticist. Mother of three humans and most comfortable in rubberboots. Words and opinions are my own.
ID: 1234511247426674695
02-03-2020 16:10:04
234 Tweet
359 Followers
276 Following
#timeisbrain - in SCNxA channels the genes are paralogs, enabling us to look at variants across all genes. A variant characterized as LOF in #SCN1A is also LOF in #SCN2A and #SCN8A Very relevant as functional testing is not clinically available. By brilliant Andreas Brunklaus