KCNB1 mutation underlies global developmental delay and seizures
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 Cellular Neuroscience. Congratulations to first author Dr. Rian Manville and middle authors Claire Illeck and Dr. Cesar Santos!
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