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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Hlavní autoři:	Robyn Whitney, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones, Hassan Kiani, Mark Tarnopolsky, Brandon Meaney
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2023-06-01
Edice:	Epilepsia Open
Témata:	congenital disorder of glycosylation developmental and epileptic encephalopathy genetics genotype ST3GAL3
On-line přístup:	https://doi.org/10.1002/epi4.12747
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