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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...
Autores principales: | Gupta, Siddharth, Hwang, Yun, Ludwig, Natasha, Henry, Julia, Kadam, Shilpa D. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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