Human KCNQ5 de novo Mutations Underlie Epilepsy and Intellectual Disability.
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DOI: 10.1152/jn.00509.2021
Abstract: We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID) and/or epilepsy by whole-exome sequencing. These variants comprised of two nonsense and four missense alterations, were functionally characterized… read more here.
Keywords: intellectual disability; gof; human kcnq5; kcnq5 ... See more keywords