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What Is KCNB1?KCNB1 is a voltage-gated potassium channel. Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Those with a KCNB1 genetic mutation typically suffer encephalopathy, refractory seizures, polyseizure profiles, abnormal EEG, developmental delay, speech language impairment, features of Autism, hypotonia, cognitive impairment, movement disorders, vision changes, GI issues, sleep disturbances, and are at higher risk for Long QT and SUDEP (sudden unexpected death due to Epilepsy). Currently, there are just over 100 known cases of KCNB1 in the world.
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Life with KCNB1: Our Heroes
Key SymptomsWhat are the Shared Key Symptoms / Features?
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Current Research StudiesGet additional information on the current KCNB1 research being done.
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Patient StoriesRead about the children who have already been diagnosed.
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Articles/Medical ResearchMedical Research and Articles Published on KCNB1
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