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Article

The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.

Epilepsia open - 1 Jun 2023

Whitney Robyn, Jain Puneet, RamachandranNair Rajesh, Jones Kevin C, Kiani Hassan, Tarnopolsky Mark, Meaney Brandon

Abstract excerpt

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 epilepsy phenotype is not fully elucidated. METHODS: A retrospective chart review of two siblings with ST3GAL3-related DEE was...

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Identifiers

PMID: 37067065
DOI: 10.1002/epi4.12747
PMCID: PMC10235173

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