Two KCNQ2 Encephalopathy Variants in the Calmodulin-Binding Helix A Exhibit Dominant-Negative Effects and Altered PIP2 Interaction
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DOI: 10.3389/fphys.2020.571813
Abstract: Heterozygous missense variants in KCNQ2, which encodes the potassium channel subunit Kv7.2, are among the most common genetic causes of severe neonatal-onset epileptic encephalopathy. Because about 20% of known severe Kv7.2 missense changes lie within… read more here.
Keywords: two kcnq2; kcnq2 encephalopathy; binding helix; kv7 ... See more keywords