Literature DB >> 22576075

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

João Rocha1, Cátia Guerra, Renata Oliveira, Sofia Dória, Ricardo Rego, Maria 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.

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Year:  2012        PMID: 22576075     DOI: 10.1684/epd.2012.0502

Source DB:  PubMed          Journal:  Epileptic Disord        ISSN: 1294-9361            Impact factor:   1.819


  4 in total

Review 1.  Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Authors:  Bo Hoon Lee; Tristram Smith; Alex R Paciorkowski
Journal:  Epilepsy Behav       Date:  2015-04-19       Impact factor: 2.937

2.  Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters.

Authors:  Marcos Manoel Honorato; Adriane Cristina Vieira Dos Santos; Felipe Luan Lima da Silva; Renata Carvalho Cremaschi; Fernando Morgadinho Coelho
Journal:  J Neurosci Rural Pract       Date:  2022-03-08

3.  Late-onset Lennox-Gastaut syndrome: Diagnostic evaluation and outcome.

Authors:  Kelsey M Smith; Jeffrey W Britton; Gregory D Cascino
Journal:  Neurol Clin Pract       Date:  2018-10

Review 4.  Conceptualizing lennox-gastaut syndrome as a secondary network epilepsy.

Authors:  John S Archer; Aaron E L Warren; Graeme D Jackson; David F Abbott
Journal:  Front Neurol       Date:  2014-10-30       Impact factor: 4.003

  4 in total

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