The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

PURPOSE: Genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) are predominantly applied in children, thus limited information is available regarding adults or elderly. METHODS: We investigated 150 adult/elderly individuals with NDDE by conventional karyotyping, FMR1 testing, chro...

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Detalles Bibliográficos
Autores principales: Zacher, Pia, Mayer, Thomas, Brandhoff, Frank, Bartolomaeus, Tobias, Le Duc, Diana, Finzel, Martin, Heinze, Anja, Horn, Susanne, Klöckner, Chiara, Körber, Gudrun, Hentschel, Julia, Kalita, Malgorzata, Krey, Ilona, Nastainczyk-Wulf, Marina, Platzer, Konrad, Rebstock, Johannes, Popp, Bernt, Stiller, Mathias, Teichmann, Anne-Christin, Jamra, Rami Abou, Lemke, Johannes R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354852/
https://www.ncbi.nlm.nih.gov/pubmed/33911214
http://dx.doi.org/10.1038/s41436-021-01153-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354852/
https://www.ncbi.nlm.nih.gov/pubmed/33911214
http://dx.doi.org/10.1038/s41436-021-01153-6

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