Case report: Off-label use of low-dose perampanel in a 25-month-old girl with a pathogenic SYNGAP1 variant

INTRODUCTION: Preclinical studies in a mouse model have shown that SYNGAP1 haploinsufficiency results in an epilepsy phenotype with excessive GluA2-AMPA insertion specifically on the soma of fast-spiking parvalbumin-positive interneurons associated with significant dysfunction of cortical gamma home...

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Detalles Bibliográficos
Autores principales: Gupta, Siddharth, Hwang, Yun, Ludwig, Natasha, Henry, Julia, Kadam, Shilpa D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/
https://www.ncbi.nlm.nih.gov/pubmed/37662032
http://dx.doi.org/10.3389/fneur.2023.1221161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/
https://www.ncbi.nlm.nih.gov/pubmed/37662032
http://dx.doi.org/10.3389/fneur.2023.1221161

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