Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12
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DOI: 10.1002/epi4.12396
Abstract: 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… read more here.
Keywords: phenotype; phenotype individuals; fgf12 duplications; duplication ... See more keywords