Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

In SCN2A-related disorders, there is an urgent demand to establish efficient methods for determining the gain- (GoF) or loss-of-function (LoF) character of variants, to identify suitable candidates for precision therapies. Here we classify clinical phenotypes of 179 individuals with 38 recurrent SCN...

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Detalles Bibliográficos
Autores principales: Berecki, Géza, Howell, Katherine B., Heighway, Jacqueline, Olivier, Nelson, Rodda, Jill, Overmars, Isabella, Vlaskamp, Danique R. M., Ware, Tyson L., Ardern-Holmes, Simone, Lesca, Gaetan, Alber, Michael, Veggiotti, Pierangelo, Scheffer, Ingrid E., Berkovic, Samuel F., Wolff, Markus, Petrou, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9151917/
https://www.ncbi.nlm.nih.gov/pubmed/35637276
http://dx.doi.org/10.1038/s42003-022-03454-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9151917/
https://www.ncbi.nlm.nih.gov/pubmed/35637276
http://dx.doi.org/10.1038/s42003-022-03454-1

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