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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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| Publicado no: | Epilepsia Open |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7278552/ https://ncbi.nlm.nih.gov/pubmed/32524056 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12396 |
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