Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Intragenic mutations in FGF12 are associated with intractable seizures, developmental regression, intellectual disability, ataxia, hypotonia, and feeding difficulties. FGF12 duplications are rarely reported, but it was suggested that those might have a similar gain‐of‐function effect and lead to a m...

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Detalles Bibliográficos
Autores principales: Willemsen, Marjolein H., Goel, Himanshu, Verhoeven, Judith S., Braakman, Hilde M. H., de Leeuw, Nicole, Freeth, Alison, Minassian, Berge A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Short Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278552/
https://www.ncbi.nlm.nih.gov/pubmed/32524056
http://dx.doi.org/10.1002/epi4.12396

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278552/
https://www.ncbi.nlm.nih.gov/pubmed/32524056
http://dx.doi.org/10.1002/epi4.12396

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