KCNB1 (DEE26, DRK1, Kv2.1) is a voltage-gated potassium channel which transport positively charged atoms of potassium in and out of cells, playing a key role in a cell'sability to generate and transmit electrical signals.
KCNB1 is expressed in various neurons and organs.
Pathogenic variants mutations in KCNB1 gene impair the flow of potassium ions in the brain causing a spectrum of neurodevelopmental disorders that can include childhood-onset epilepsy, developmental delay, prominent language impairment and features of autism spectrum disorder.
To date, more than 50 distinct KCNB1 pathogenic variants have been reported.
This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with pathogenic variants in KCNB1 gene.
Rima Nabbout, MD, PhD, Necker-Enfants Malades Hospital, APHP, Institut Imagine, Université Paris cité, Paris, France, firstname.lastname@example.org