Late‐onset Lennox‐Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

• DOI: 10.1684/epd.2012.0502
• Publication Date: 2019-08-02T13:24:19Z
• Authors: João Rocha; Cátia Guerra; Renata Oliveira; Sofia Dória; Ricardo Rego; Maria José Rosas
• Keywords: Lennox–Gastaut syndrome

ABSTRACT The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of characterised by hypotonia, delay in motor skills and language development, cognitive learning disabilities, autism spectrum disorder refractory epilepsy. late development Lennox‐Gastaut patients 15q11q13 is possibility that physicians should be aware of. We report the case 27‐year‐old man neurodevelopmental due to duplication, intellectual disability, psychiatric disturbances, an epileptic phenotype diagnosed as late‐onset syndrome.