. . . . . . . "[18 different mutations (7 novel ones) were identified in 20 unrelated girls/mutations were identified in eight patients with encephalopathy with RTT-like features, five with infantile spasms and seven with encephalopathy with refractory epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:16:30+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .