The Abbott Bioelectricity Lab in collaboration with pediatric neurologist Dr. Rich Sidlow have described the molecular basis for global developmental delay and seizures in a fraternal twin – the disorder arises from a loss-of-function sequence variant (P385L) in the KCNB1 gene, which encodes the Kv2.1 potassium channel. The paper was published today in Frontiers in…
KCNB1 mutation underlies global developmental delay and seizures
