De novo substitutions of TRPM3 cause intellectual disability and epilepsy

The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic encephalopathies frequently associated with rare de novo nonsynonymous coding variants in neuronally expressed genes. Here, we describe eight probands with a DEE phenotype comprising intellectual disability,...

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Detalles Bibliográficos
Autores principales: Dyment, David A., Terhal, Paulien A., Rustad, Cecilie F., Tveten, Kristian, Griffith, Christopher, Jayakar, Parul, Shinawi, Marwan, Ellingwood, Sara, Smith, Rosemarie, van Gassen, Koen, McWalter, Kirsty, Innes, A. Micheil, Lines, Matthew A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777445/
https://www.ncbi.nlm.nih.gov/pubmed/31278393
http://dx.doi.org/10.1038/s41431-019-0462-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777445/
https://www.ncbi.nlm.nih.gov/pubmed/31278393
http://dx.doi.org/10.1038/s41431-019-0462-x

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