Key result
De novo KCNQ5 mutations in children with epilepsy and intellectual disability resulted in gain-of-function potassium channels with negatively shifted activation and delayed deactivation kinetics.
De novo KCNQ5 mutations cause gain-of-function in potassium channels, contributing to epilepsy and intellectual disability.
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KCNQ5 GOF variants warrant inclusion in neurodevelopmental gene panels; leaves open whether channel modulation offers therapeutic benefit.
Wei et al. (2022) studied Neurodevelopmental delay, intellectual disability, and/or epilepsy. KCNQ5 de novo mutations was evaluated on Channel function (activation and deactivation kinetics). De novo KCNQ5 mutations in children with epilepsy and intellectual disability resulted in gain-of-function potassium channels with negatively shifted activation and delayed deactivation kinetics.
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