De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures

Objectives: Mutations in the STXBP1 gene have been associated with epileptic encephalopathy. Previous studies from in vitro neuroblastoma 2A cells showed that haploinsufficiency of STXBP1 is the mechanism for epileptic encephalopathy. In this ex vivo study, STXPB1 DNA mutations and RNA expression we...

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Detalles Bibliográficos
Autores principales: Yang, Ping, Broadbent, Robert, Prasad, Chitra, Levin, Simon, Goobie, Sharan, Knoll, Joan H., Prasad, Asuri N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739808/
https://www.ncbi.nlm.nih.gov/pubmed/35002943
http://dx.doi.org/10.3389/fneur.2021.804078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739808/
https://www.ncbi.nlm.nih.gov/pubmed/35002943
http://dx.doi.org/10.3389/fneur.2021.804078

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