Articles with "st3gal3 related" as a keyword



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The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

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Published in 2023 at "Epilepsia Open"

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