The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

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 phen...

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Detalles Bibliográficos
Autores principales: Whitney, Robyn, Jain, Puneet, RamachandranNair, Rajesh, Jones, Kevin C., Kiani, Hassan, Tarnopolsky, Mark, Meaney, Brandon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235173/
https://www.ncbi.nlm.nih.gov/pubmed/37067065
http://dx.doi.org/10.1002/epi4.12747

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235173/
https://www.ncbi.nlm.nih.gov/pubmed/37067065
http://dx.doi.org/10.1002/epi4.12747

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