Abstract
The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should be aware of.We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome.
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Rocha, J., Guerra, C., Oliveira, R. et al. Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication. Epileptic Disord. 14, 159–162 (2012). https://doi.org/10.1684/epd.2012.0502
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DOI: https://doi.org/10.1684/epd.2012.0502