. . . . . . . . . . . . "[The absence of the mutation both in the healthy members of the family and in a control group, and the lack of any other change in the KCNQ2 gene of the patients indicate that N258S substitution is a pathogenic mutation leading to epileptic seizures in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:33:22+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .