Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A

SMC1A variants are known to cause Cornelia de Lange Syndrome (CdLS) which encompasses a clinical spectrum of intellectual disability, dysmorphic features (long or thick eyebrows, a hypomorphic philtrum and small nose) and, in some cases, epilepsy. More recently, SMC1A truncating variants have been d...

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Detalles Bibliográficos
Autores principales: Elwan, Menatalla, Fowkes, Ross, Lewis-Smith, David, Winder, Amy, Baker, Mark R., Thomas, Rhys H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194849/
https://www.ncbi.nlm.nih.gov/pubmed/35712061
http://dx.doi.org/10.1016/j.ebr.2022.100556

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