Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0238111 (Lennox-Gastaut syndrome)
 861 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The 4 Mb 15q11-q13 region is prone to structural rearrangements. Deletions have been identified among the leading causes for genetic diseases such as the Prader-Willi and Angelman syndromes, while duplications, occurring preferentially on the maternal chromosome, produce a typical phenotype that includes mental retardation, language delay, seizures and autism. Although a number of such patients have been reported, however, there is a paucity of information about their clinical outcomes in adult age. We report on a 33-year-old female with a microduplication of 15q11-q13 detected by array-CGH analysis, with particular reference to the epilepsy phenotype, characterized as a late-onset Lennox-Gastaut syndrome.
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PMID:Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication. 1939 34