Design
Review
Key result
Pathogenic variants in KCNQ2 disrupt Kv7.2 channel function and the M-current, leading to severe developmental and epileptic encephalopathies by altering critical early neurodevelopmental processes.
Authors
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May guide KCNQ2 testing in early encephalopathies; leaves open validation of the three-phase model for targeted therapies.
This review highlights the critical role of Kv7.2 channels in neurodevelopment and proposes a three-phase model of M-current activity to explain KCNQ2-related developmental and epileptic encephalopathies.
Dirkx et al. (2020) conducted a review in KCNQ2-encephalopathy and neurodevelopmental disorders. KCNQ2 pathogenic variants was evaluated. Pathogenic variants in KCNQ2 disrupt Kv7.2 channel function and the M-current, leading to severe developmental and epileptic encephalopathies by altering critical early neurodevelopmental processes.