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

Epileptic Disorders : International Epilepsy Journal with Videotape
João RochaMaria José Rosas

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.

Citations

Nov 18, 2014·Frontiers in Neurology·John S ArcherDavid F Abbott
Dec 20, 2018·Neurology. Clinical Practice·Kelsey M SmithGregory D Cascino
Nov 1, 2015·Arquivos de neuro-psiquiatria·Marina C GonsalesIscia Lopes-Cendes
Mar 28, 2021·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·M-T DanglesM Eisermann

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