Atul Maheshwari
@neuromaheshwari.bsky.social
Associate Professor, Department of Neurology, Baylor College of Medicine | opinions my own
Reposted by Atul Maheshwari
Principal Investigator Zhao Wang and researchers at @bcmhouston.bsky.social investigate a potential cause of a type of severe epilepsy that develops in early life because of a defect in a gene called KCNQ2. buff.ly/4geoFeo
Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy
A single amino acid change in a neuronal ion channel called KCNQ2 blocks ion flow, prevents protein localization on axons, and results in severe epilepsy and slowed neurological development.
buff.ly
February 14, 2025 at 4:15 PM
Principal Investigator Zhao Wang and researchers at @bcmhouston.bsky.social investigate a potential cause of a type of severe epilepsy that develops in early life because of a defect in a gene called KCNQ2. buff.ly/4geoFeo