. . . . . . . "[We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T?>?C/?=?; p.L1342P/?=?), who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:16:04+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .