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
The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy
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DOI: 10.1002/epi4.12747
Abstract: ST3GAL3‐related developmental and epileptic encephalopathy (DEE‐15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. Only a few cases have been reported, and the epilepsy phenotype… read more here.
Keywords: epilepsy phenotype; developmental epileptic; st3gal3 related; epileptic encephalopathy ... See more keywords
Animal Models of Epilepsy: A Phenotype-oriented Review
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DOI: 10.14336/ad.2021.0723
Abstract: Epilepsy is a serious neurological disorder characterized by abnormal, recurrent, and synchronous discharges in the brain. Long-term recurrent seizure attacks can cause serious damage to brain function, which is usually observed in patients with temporal… read more here.
Keywords: seizure; animal models; epilepsy phenotype; phenotype oriented ... See more keywords