. . . . . . . . . . . . "[The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with KCNQ2-encephalopathy. The mutation in KCNQ3, c.989G>A, was novel and occurred in an infant with BFNS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:50:51+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .