Journal article
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 epilepsy phenotype is not fully elucidated.
METHODS: A retrospective chart review of two siblings with ST3GAL3-related DEE was completed. In addition, we …
Authors
Whitney R; Jain P; RamachandranNair R; Jones KC; Kiani H; Tarnopolsky M; Meaney B
Journal
Epilepsia Open, Vol. 8, No. 2, pp. 623–632
Publisher
Wiley
Publication Date
June 2023
DOI
10.1002/epi4.12747
ISSN
2470-9239