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The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

Abstract Objective 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 epile...

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Autori principali: Robyn Whitney, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones, Hassan Kiani, Mark Tarnopolsky, Brandon Meaney
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley 2023-06-01
Serie:Epilepsia Open
Soggetti:
congenital disorder of glycosylation
developmental and epileptic encephalopathy
genetics
genotype
ST3GAL3
Accesso online:https://doi.org/10.1002/epi4.12747
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