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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 en: | Epilepsia Open |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acceso en liña: | 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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