Article

High throughput Characterization of <i>KCNB1</i> variants Associated with Developmental and Epileptic Encephalopathy

2019-05-14

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in KCNB1 , encoding the voltage-gated potassium channel Kv2.1, are associated with developmental and epileptic encephalopathies (DEE). Previous functional studies on a limited number of KCNB1 variants indicated a range of molecular mechanisms by which variants affect channel function, including loss of voltage sensitivity, loss of ion selectivity, and reduced cell-surface e...

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Literature Corpus work: 288aaab8-b71b-53d1-8b98-62050f6c492e
DOI: 10.1101/637041

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